Yayınlar & Eserler

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SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Letter to the Editor regarding “New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An investigation of the etiology and follow-up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant” by Yüksel Ülker et al. and “Expanding the phenotype and genotype in Thauvin-Robinet-Faivre syndrome: A new patient with a novel variant and additional clinical findings” by Duzenli et al.

DÜZENLİ T., SEZER A., PERÇİN F. E.
American Journal of Medical Genetics, Part A , cilt.194, sa.4, 2024 (SCI-Expanded) identifier identifier identifier

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease

Sezer A., KAYHAN G., RAMASLI GÜRSOY T., ŞİŞMANLAR EYÜBOĞLU T., PERÇİN F. E.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.191, sa.1, ss.220-227, 2023 (SCI-Expanded) identifier identifier identifier

Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn

Taş M., Kurtuluş M., Keleş Gülnerman E., Türkyılmaz C., Perçin F. E., Ergenekon N. E., et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE , cilt.82, sa.5, ss.458-462, 2022 (SCI-Expanded) identifier identifier identifier

A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities

Sezer A., Perçin F. E., Kazan H. H., Kayhan G., Akturk M. Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.188, sa.6, ss.1890-1895, 2022 (SCI-Expanded) identifier identifier identifier

Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium

Dündar M., Fahrioglu U., Yildiz S. H., Bakir-Gungor B., Temel Ş. G., Akın H., et al.
FUNCTIONAL & INTEGRATIVE GENOMICS , cilt.22, sa.3, ss.291-315, 2022 (SCI-Expanded) identifier identifier identifier

Genome-Wide Association and Whole Exome Sequencing Studies reveal a Novel Candidate Locus for Restless Legs Syndrome

ERGÜN U., Say B., Ergun S. G., PERÇİN F. E., Inan L., Kaygisiz S., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.30, sa.SUPPL 1, ss.297-298, 2022 (SCI-Expanded) identifier

Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey

Özaslan A., Kayhan G., İşeri E., Ergün M. A., Güney E., Perçin F. E.
MOLECULAR BIOLOGY REPORTS , cilt.48, sa.11, ss.7371-7378, 2021 (SCI-Expanded) identifier identifier identifier

Genome-wide association and whole exome sequencing studies reveal a novel candidate locus for restless legs syndrome.

Ergun U., Say B., Ergun S. G., PERÇİN F. E., Inan L., Kaygisiz S., et al.
European journal of medical genetics , cilt.64, sa.4, ss.104186, 2021 (SCI-Expanded) identifier identifier identifier

Is cervical swab an efficient method for developing a new noninvasive prenatal diagnostic test for numerical and structural chromosome anomalies?

Yurtcu E., KARÇAALTINCABA D., Kazan H. H., Ozdemir H., YİRMİBEŞ KARAOĞUZ M., Calis P., et al.
TURKISH JOURNAL OF MEDICAL SCIENCES , sa.3, ss.1043-1048, 2021 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier identifier

An infant with two de novo variants causing recessive and dominant disorders: Diagnostic challenge

Sezer A., Ogutlu O. B. G., TÜRKYILMAZ Z., GÜCÜYENER K., KAYHAN G., PERÇİN F. E.
EUROPEAN JOURNAL OF HUMAN GENETICS , cilt.28, ss.895, 2020 (SCI-Expanded) identifier

Pan-european landscape of research into neurodevelopmental copy number variants: A survey by the MINDDS consortium

Chawner S. J., Mihaljevic M., Morrison S., Yapıcı Eser H., Maillard A. M., Nowakowska B., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.63, sa.12, ss.104093, 2020 (SCI-Expanded) Creative Commons License

Intelligent Ratio: A New Method for Carrier and Newborn Screening in Spinal Muscular Atrophy.

Cavdarli B., Ozturk F. N., Guntekin Ergun S., ERGÜN M. A., Dogan O., Percin E. F.
Genetic testing and molecular biomarkers , cilt.24, sa.9, ss.569-577, 2020 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Warburg Micro Syndrome 1 due to Segmental Paternal Uniparental Isodisomy of Chromosome 2 Detected by Whole-Exome Sequencing and Homozygosity Mapping

Sezer A., Kayhan G., Koc A., Ergün M. A., Perçin F. E.
CYTOGENETIC AND GENOME RESEARCH , cilt.160, sa.6, ss.309-315, 2020 (SCI-Expanded) Creative Commons License identifier identifier identifier

Aetiological Evaluation of oligodontia in a Three-Generation Family

Ergun S. G., BALOŞ TUNCER B., ERGÜN M. A., Kolbasi G., Orhan M., PERÇİN F. E.
ORAL HEALTH & PREVENTIVE DENTISTRY , cilt.18, sa.2, ss.271-275, 2020 (SCI-Expanded) identifier identifier identifier

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility

SEZER A., KAYHAN G., Zenker M., Percin E. F.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.62, sa.12, 2019 (SCI-Expanded) identifier identifier identifier

A rare etiology of epileptic encephalopathy: HECW2 mutations

Demirbaş H., Özbudak P., Serdaroğlu A., Ergün M. A., Perçin F. E.
European Journal Of Human Genetics , cilt.27, ss.1435, 2019 (SCI-Expanded)

A case of panhipopituitarism with SOX3 gene deletion

CİNAZ P., KAYHAN G., DÖĞER E., Ugurlu A., Akbas E. D., Kupcu Z., et al.
HORMONE RESEARCH IN PAEDIATRICS , ss.179, 2019 (SCI-Expanded) identifier

Congenital generalized lipodystrophy type 4-New mutation in the CAVIN1 gene

DÖĞER E., SEZER A., Ugurlu A., Akbas E. D., Percin F. E., BİDECİ A., et al.
HORMONE RESEARCH IN PAEDIATRICS , ss.303-304, 2019 (SCI-Expanded) identifier

The impact of perioperative care on complications and short term outcome in ARM type rectovestibular fistula: An ARM-Net consortium study

van Der Steeg H. J. J., van Rooij I. A. L. M., Iacobelli B. D., Sloots C. E. J., Leva E., Broens P., et al.
JOURNAL OF PEDIATRIC SURGERY , cilt.54, sa.8, ss.1595-1600, 2019 (SCI-Expanded) identifier identifier identifier

Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient

Perçin F. E., Kayhan G., Sezer A., Koç A., Ergün M. A.
European Journal Of Human Genetics , cilt.27, ss.384-385, 2019 (SCI-Expanded)

A mosaic double aneuploidy: mos 45,X/47,XX,+18/46,XX with mild phenotype

Demirbaş M., Hablioğlu E., Ergün M., Perçin F. E., Karaoğuz M.
European Journal Of Human Genetics , cilt.27, ss.996, 2019 (SCI-Expanded)

HACE1 deficiency leads to structural and functional neurodevelopmental defects

Nagy V., Hollstein R., Pai T., Herde M. K., Buphamalai P., Moeseneder P., et al.
NEUROLOGY-GENETICS , cilt.5, sa.3, 2019 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

Copy number variation analysis in autism spectrum disorders

Güney E., İşeri E., Ergün M. A., Kayhan G., Perçin F. E.
European Journal Of Human Genetics , sa.27, ss.1-688, 2019 (SCI-Expanded)

An eight-case 1q21 region series: novel aberrations and clinical variability with new features

Ceylan A. C., Sahin I., Erdem H. B., Kayhan G., Simsek-Kiper P. O., Utine G. E., et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH , cilt.63, sa.6, ss.548-557, 2019 (SSCI) identifier identifier identifier

A novel RYR 1 gene mutation in a patient with severe central core disease

Perçin F. E., Kayhan G., Ergün M. A.
European Journal Of Human Genetics , cilt.26, ss.423-424, 2018 (SCI-Expanded)

A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization

Ergün M. A., Ünal A., Güntekin Ergün S., Perçin F. E.
European Journal Of Human Genetics , cilt.26, ss.998, 2018 (SCI-Expanded)

Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?

Kayhan G., Torun D., Ünal A., Ergün M. A., Perçin F. E.
European Journal Of Human Genetics , cilt.26, ss.466, 2018 (SCI-Expanded)

Identification of Three Novel FBN1 Mutations and Their Phenotypic Relationship of Marfan Syndrome

KAYHAN G., ERGÜN M. A., Ergun S. G., KULA S., PERÇİN F. E.
GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.22, sa.8, ss.474-480, 2018 (SCI-Expanded) identifier identifier identifier

The relation between isolated micropenis in childhood with CAG and GGN repeat polymorphisms in the androgen receptor gene

Tuğ E., Ergun S. G., Ergün M. A., Dilek F. N., Percin E. F.
TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.48, sa.2, ss.430-434, 2018 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Clinical findings in cases with 9q deletion encompassing the 9q21.11q21.32 region

Tuğ E., Ergün M. A., Perçin F. E.
TURKISH JOURNAL OF PEDIATRICS , cilt.60, sa.1, ss.94-98, 2018 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier

Polymorphisms in the Growth Differentiation Factor 5 (GDF 5) Gene in Knee Osteoarthritis

Sabah-Ozcan S., Korkmaz M., Balbaloglu O., Percin F. E., YILMAZ N., Erdogan Y., et al.
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN , cilt.27, sa.10, ss.602-605, 2017 (SCI-Expanded) identifier identifier identifier

Association of CYP3A5 Expression and Vincristine Neurotoxicity in Pediatric Malignancies in Turkish Population

Kayilioglu H., KOÇAK Ü., Karaer D. K., Percin E. F., Sal E., Tekkesin F., et al.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY , cilt.39, sa.6, ss.458-462, 2017 (SCI-Expanded) identifier identifier identifier

Influence of Folate-Related Gene Polymorphisms on High-Dose Methotrexate-Related Toxicity and Prognosis in Turkish Children with Acute Lymphoblastic Leukemia

Yazıcıoğlu B., Kaya Z., Ergun S. G., Percin F. E., Koçak Ü., Yenicesu I., et al.
TURKISH JOURNAL OF HEMATOLOGY , cilt.34, sa.2, ss.143-150, 2017 (SCI-Expanded) Creative Commons License identifier identifier identifier

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Reynolds J. J., Bicknell L. S., Carroll P., Higgs M. R., Shaheen R., Murray J. E., et al.
NATURE GENETICS , cilt.49, sa.4, ss.537-552, 2017 (SCI-Expanded) Creative Commons License identifier identifier identifier

Influence of ABCB1 polymorphisms and serum concentrations on venlafaxine response in patients with major depressive disorder

ÖZBEY G., Celikel F. C., Cumurcu B. E., Kan D., Yucel B., Hasbek E., et al.
NORDIC JOURNAL OF PSYCHIATRY , cilt.71, sa.3, ss.230-237, 2017 (SCI-Expanded) identifier identifier identifier

LRP5-linked osteoporosis- pseudoglioma syndrome mimicking isolated microphthalmia

Ergun S. G., GÜMÜŞ-AKAY G., ERGÜN M. A., Percin E. F.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.60, sa.3, ss.200-204, 2017 (SCI-Expanded) identifier identifier identifier

Development of a new real-time PCR screening kit for HbS and common beta-thalassemia mutations observed in Turkey

Kan Karaer D., ERGÜN M. A., ILGIN RUHİ H., Ozturk J., Kara H., Reisoglu Cakmak D., et al.
TURKISH JOURNAL OF MEDICAL SCIENCES , cilt.47, sa.3, ss.973-978, 2017 (SCI-Expanded) identifier identifier identifier

Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

Boppudi S., Boegershausen N., Hove H. B., Percin E. F., Aslan D., Dvorsky R., et al.
CLINICAL GENETICS , cilt.90, sa.4, ss.334-342, 2016 (SCI-Expanded) identifier identifier identifier

OCULOECTODERMAL SYNDROME: A NEW CASE WITH GIANT CELL GRANULOMAS AND NON-OSSIFYING FIBROMAS

Mermer S., Kayhan G., Karacelebi E., Percin F. E.
GENETIC COUNSELING , cilt.27, sa.1, ss.77-81, 2016 (SCI-Expanded) identifier identifier identifier

SUBMICROSCOPIC DUPLICATION OF 8q24.3 REGION IS A POTENTIAL CANDIDATE FOR DISORDERS OF SEX DEVELOPMENT

Dilek F. N., Percin E. F., Kayserili H., ERGÜN M. A., Saka N.
GENETIC COUNSELING , cilt.27, sa.3, ss.385-392, 2016 (SCI-Expanded) identifier identifier identifier

MECP2 DUPLICATION SYNDROME WITH ADDITIONAL FINDINGS

Tuğ E., Ergün M. A., Percin E. F.
GENETIC COUNSELING , cilt.27, sa.4, ss.471-478, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

MATTHEW-WOOD SYNDROME: A CASE WITH DEXTROCARDIA AND STREAK GONADS

Cubuk P. O., Ho L., Reversade B., Percin E. F.
GENETIC COUNSELING , cilt.27, sa.3, ss.405-410, 2016 (SCI-Expanded) identifier identifier identifier

THE 3rd W522X MUTATION IN EIF2AK3 GENE FROM TURKEY: A NEW PATIENT WITH WOLCOTT-RALLISON SYNDROME

Bahsi T., Unal A., Bakir A., Percin E. F.
GENETIC COUNSELING , cilt.27, sa.3, ss.411-418, 2016 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Boegershausen N., Tsai I., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., PERÇİN F. E., et al.
JOURNAL OF CLINICAL INVESTIGATION , cilt.125, sa.9, ss.3585-3599, 2015 (SCI-Expanded) Creative Commons License identifier identifier identifier

A PATIENT WITH PARTIAL CHROMOSOME 12q DUPLICATION AND 10q DELETION

Saat H., Soysal Y., Kurtgoz S., ERGÜN M. A., PERÇİN F. E.
GENETIC COUNSELING , cilt.26, sa.4, ss.401-407, 2015 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Malik S., PERÇİN F. E., Bornholdt D., Albrecht B., Percesepe A., Koch M. C., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.95, sa.6, ss.649-659, 2014 (SCI-Expanded) Creative Commons License identifier identifier identifier

Mutations in CKAP2L, the Human Homo log of the Mouse Radmis Gene, Cause Filippi Syndrome

Hussain M. S., Battaglia A., Szczepanski S., Kaygusuz E., Toliat M. R., Sakakibara S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.95, sa.5, ss.622-632, 2014 (SCI-Expanded) Creative Commons License identifier identifier identifier

Evaluation of GenoFlow Thrombophilia Array Test Kit in Its Detection of Mutations in Factor V Leiden (G1691A), Prothrombin G20210A, MTHFR C677T and A1298C in Blood Samples from 113 Turkish Female Patients

Aytekin E., Ergun S. G., ERGÜN M. A., PERÇİN F. E.
GENETIC TESTING AND MOLECULAR BIOMARKERS , cilt.18, sa.11, ss.717-721, 2014 (SCI-Expanded) Creative Commons License identifier identifier identifier

Chromosomal-array analysis reveals partial 11q duplication and partial 12p deletion in a mildly affected case

TUĞ E., YİRMİBEŞ KARAOĞUZ M., Kayhan G., ERGÜN M. A., PERÇİN F. E.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.7, ss.1770-1776, 2014 (SCI-Expanded) identifier identifier identifier

Modeling Human Retinal Development with Patient-Specific Induced Pluripotent Stem Cells Reveals Multiple Roles for Visual System Homeobox 2

Phillips M. J., Perez E. T., Martin J. M., Reshel S. T., Wallace K. A., Capowski E. E., et al.
STEM CELLS , cilt.32, sa.6, ss.1480-1492, 2014 (SCI-Expanded) Creative Commons License identifier identifier identifier

ABCB1 C3435T polymorphism is associated with susceptibility to major depression, but not with a clinical response to citalopram in a Turkish population

ÖZBEY G., Yucel B., Taycan S. E., Kan D., Bodur N. E., Arslan T., et al.
PHARMACOLOGICAL REPORTS , cilt.66, sa.2, ss.235-238, 2014 (SCI-Expanded) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

ALANAY Y., Erguner B., Utine E., Hacariz O., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , cilt.164, sa.2, ss.291-304, 2014 (SCI-Expanded) identifier identifier identifier

T102C and 1438 G/A polymorphisms of the serotonin 2A receptor gene in etiology and course of ADHD

Guney E., İşeri E., Ergun S. G., Perçin F. E., Ergün M. A., Yalcin O., et al.
International Journal of Human Genetics , cilt.14, ss.59-66, 2014 (SCI-Expanded) identifier identifier

The Correlation of Attention Deficit Hyperactivity Disorder with DRD4 Gene Polymorphism in Turkey

Guney E., İşeri E., Ergun S. G., Perçin F. E., Ergün M. A., Yalcin O., et al.
INTERNATIONAL JOURNAL OF HUMAN GENETICS , cilt.13, sa.3, ss.145-152, 2013 (SCI-Expanded) identifier identifier

A Turkish family with Nance-Horan syndrome due to a novel mutation

Tuğ E., Dilek N. F., Javadiyan S., Burdon K. P., Perçin F. E.
GENE , cilt.525, sa.1, ss.141-145, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Rectal duplications accompanying rectovestibular fistula: report of two cases.

Pampal A., Ozbayoglu A., KAYA C., Pehlivan Y., POYRAZ A., Ozen I. O., et al.
Pediatrics international : official journal of the Japan Pediatric Society , cilt.55, sa.4, 2013 (SCI-Expanded) identifier identifier identifier

Molecular karyotyping of an isolated partial trisomy 11q patient with additional findings

KAYHAN G., Cavdarli B., YİRMİBEŞ KARAOĞUZ M., PERÇİN F. E., Kaymak A. O., Biri A., et al.
GENE , cilt.524, sa.2, ss.355-360, 2013 (SCI-Expanded) identifier identifier identifier

Array and Cytogenetic Analyses Revealed Partial 11q Duplication and Partial 12p Deletion in a Case with Mild Phenotype

Tuğ E., Yirmibeş Karaoğuz M., Kayhan G., Ergün M. A., Perçin F. E.
CHROMOSOME RESEARCH , cilt.21, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma identifier

Prenatally detected tetrasomy 18p and trisomy 21q due to i(18p) and i(21q) by using cytogenetic and molecular techniques

Yirmibeş Karaoğuz M., Percin E. F., Pala E., Kaymak A. O., Tuğ E., Biri A. A.
CHROMOSOME RESEARCH , cilt.21, 2013 (SCI-Expanded) Sürdürülebilir Kalkınma identifier

Spondylocostal Dysostosis Associated with Type I Split Cord Malformation and Double Nipple on One Side: A Case Report

Yilmaz M. B., Kaymak A., KURT G., PERÇİN F. E., Baykaner K.
TURKISH NEUROSURGERY , cilt.23, sa.2, ss.256-259, 2013 (SCI-Expanded) Creative Commons License identifier identifier identifier

A case with double translocation and sjögren's syndrome Sjögren Sendromu Tanılı ve Çift Translokasyon Taşıyıcısı Bir Olgu

Çavdarli B., Özgen G., Kaymak A. Ö., GÖKER B., Liehr T., ERGÜN M. A., et al.
Turkiye Klinikleri Journal of Medical Sciences , cilt.33, sa.1, ss.263-266, 2013 (SCI-Expanded) identifier

Blood-Derived Human iPS Cells Generate Optic Vesicle-Like Structures with the Capacity to Form Retinal Laminae and Develop Synapses

Phillips M. J., Wallace K. A., Dickerson S. J., Miller M. J., Verhoeven A. D., Martin J. M., et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , cilt.53, ss.2007-2019, 2012 (SCI-Expanded) Creative Commons License identifier identifier identifier

A patient with 9q subtelomeric deletion syndrome with additional findings.

Tuğ E., Cavdarli B., Karaoguz M., Perçin F. E.
Genetic counseling (Geneva, Switzerland) , cilt.23, sa.4, ss.465-71, 2012 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Thiopurine methyltransferase polymorphisms and mercaptopurine tolerance in Turkish children with acute lymphoblastic leukemia.

Albayrak M., Konyssova U., Kaya Z., Gursel T., Guntekin S., Perçin F. E., et al.
Cancer chemotherapy and pharmacology , cilt.68, sa.5, ss.1155-9, 2011 (SCI-Expanded) identifier identifier identifier

Detection of Marker Chromosome in the Abortion Material; Does It Reflect the Karyotype of the Pregnancy Lost Tissue or the Maternal Decidual Tissue? Case Report

Koc A., YİRMİBEŞ KARAOĞUZ M., Pala E., PERÇİN F. E., ERDEM M., Karaer K., et al.
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI , cilt.31, sa.5, ss.1293-1297, 2011 (SCI-Expanded) identifier identifier

Microphthalmia

Perçin F. E.
Current Opinion In Biotechnology , cilt.22, ss.27, 2011 (SCI-Expanded)

MEFV gene mutations and its impact on the clinical course in ulcerative colitis patients

Yildirim B., Tuncer C., Kan D., Tunc B., Demirag M. D., PERÇİN F. E., et al.
RHEUMATOLOGY INTERNATIONAL , cilt.31, sa.7, ss.859-864, 2011 (SCI-Expanded) identifier identifier identifier

Monosomy 1p36 Syndrome: The First Case Report from Turkey

Karaer K., YİRMİBEŞ KARAOĞUZ M., PERÇİN F. E.
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI , cilt.31, sa.1, ss.280-284, 2011 (SCI-Expanded) identifier identifier

LINKAGE ANALYSIS AND A NOVEL COL4A5 MUTATION IN A LARGE TURKISH FAMILY WITH ALPORT SYNDROME

Tuğ E., Perçin F. E., Pala E., Baysoy G.
GENETIC COUNSELING , cilt.22, sa.2, ss.143-153, 2011 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

JAK2 V617F MUTATION IN HEMATOLOGICAL DISORDERS IN TURKISH POPULATION: C04

Güntekin Ergün S., Bakır A., Ergün M. A., Perçin F. E.
Clinical Genetics , cilt.78, ss.4, 2010 (SCI-Expanded)

A CASE WITH PARTIAL TRISOMY 4Q (Q25-QTER): X42

Eğritaş Gürkan Ö., Çavdarlı B., Dalgıç B., Ergün M. A., Perçin F. E., Ziegler M., et al.
Clinical Genetics , cilt.78, ss.42, 2010 (SCI-Expanded)

Duplication 4q associated with chronic cholestatic changes in liver biopsy

EĞRİTAŞ GÜRKAN Ö., Cavdarli B., DALGIÇ B., ERGÜN M. A., PERÇİN F. E., Ziegler M., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS , cilt.53, sa.6, ss.411-414, 2010 (SCI-Expanded) identifier identifier identifier

THREE SISTERS WITH PACHYDERMOPERIOSTOSIS: A16

Öztürk Kaymak A., Özer H., Perçin F. E.
Clinical Genetics , cilt.78, ss.16, 2010 (SCI-Expanded)

A CASE WITH CEREBRO-FACIO-THORACIC DYSPLASIA: A15

Perçin F. E., Öztürk Kaymak A.
Clinical Genetics , cilt.78, ss.15, 2010 (SCI-Expanded)

A case with de novo inv dup del(8p) associated with dextrocardia and corpus callosum agenesis

ERGÜN M. A., KULA S., Karaer K., PERÇİN F. E.
PEDIATRICS INTERNATIONAL , cilt.52, sa.5, ss.845-846, 2010 (SCI-Expanded) identifier identifier identifier

The importance of systematic genetic approach to familial schizophrenia cases and discussion of cryptic mosaic X chromosome aneuploidies in schizophrenia pathogenesis

Koc A., YİRMİBEŞ KARAOĞUZ M., COŞAR B., PERÇİN F. E., Sahin S., Baysak E., et al.
INTERNATIONAL JOURNAL OF PSYCHIATRY IN CLINICAL PRACTICE , cilt.14, sa.3, ss.204-211, 2010 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

LRP4 Mutations Alter Wnt/beta-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome

Li Y., Pawlik B., Elcioglu N., Aglan M., Kayserili H., Yigit G., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.86, sa.5, ss.696-706, 2010 (SCI-Expanded) Creative Commons License identifier identifier identifier

Fibrillin-1 gene intron 56 polymorphism in Turkish children with mitral valve prolapse

Ozdemir O., Olgunturk R., Karaer K., ERGÜN M. A., TUNAOĞLU F. S., KULA S., et al.
CARDIOLOGY IN THE YOUNG , cilt.20, sa.2, ss.173-177, 2010 (SCI-Expanded) identifier identifier identifier

Paris‐Trousseau‐type macrothrombocytopenia without 11q deletion

Kaya Z., Koçak Ü., Perçin F. E., Kunishima S., Albayrak M., Gürsel T., et al.
PEDIATRICS INTERNATIONAL , cilt.52, sa.2, ss.67-71, 2010 (SCI-Expanded) Creative Commons License

Lrp4 Regulates Initiation of Ureteric Budding and Is Crucial for Kidney Formation - A Mouse Model for Cenani-Lenz Syndrome

Karner C. M., Dietrich M. F., Johnson E. B., Kappesser N., Tennert C., PERÇİN F. E., et al.
PLOS ONE , cilt.5, sa.4, 2010 (SCI-Expanded) identifier identifier identifier

SRY GENE AMPLIFICATIONS AND GENOTYPINGS REVEALED THE OCCURRENCE OF THE HIDDEN MATERNAL DECIDUAL CELLS IN 46,XX KARYOTYPED SPONTANEOUS ABORTIONS

Karaoguz M., PERÇİN F. E., Pala E., Biri A. A., Korucuoglu U.
GENETIC COUNSELING , cilt.21, sa.1, ss.9-17, 2010 (SCI-Expanded) identifier identifier identifier

Supernumerary marker chromosome 15 in a male with azoospermia and open bite deformity

Koc A., Onur S. O., ERGÜN M. A., PERÇİN F. E.
ASIAN JOURNAL OF ANDROLOGY , cilt.11, sa.5, ss.617-622, 2009 (SCI-Expanded) identifier identifier identifier

Effects of microalgae chlorella species crude extracts on intestinal adaptation in experimental short bowel syndrome

KEREM M., Salman B., PAŞAOĞLU H., BEDİRLİ A., Alper M., KATIRCIOĞLU H., et al.
WORLD JOURNAL OF GASTROENTEROLOGY , cilt.14, sa.28, ss.4512-4517, 2008 (SCI-Expanded) Creative Commons License identifier identifier identifier

An unexpected finding in a child with neurological problems: mosaic ring chromosome 18

Koc A., Kan D., Karaer K., ERGÜN M. A., YİRMİBEŞ KARAOĞUZ M., GÜCÜYENER K., et al.
EUROPEAN JOURNAL OF PEDIATRICS , cilt.167, sa.6, ss.655-659, 2008 (SCI-Expanded) identifier identifier identifier

A case with a ring chromosome 22

Koc A., Karaer K., ERGÜN M. A., YİRMİBEŞ KARAOĞUZ M., Kan D., Cansu A., et al.
TURKISH JOURNAL OF PEDIATRICS , cilt.50, sa.2, ss.193-196, 2008 (SCI-Expanded) identifier identifier identifier

Y chromosome azoospermia factor region microdeletions and recurrent pregnancy loss

KARAER A., Karaer K., Ozaksit G., Ceylaner S., PERÇİN F. E.
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY , cilt.199, sa.6, 2008 (SCI-Expanded) identifier identifier identifier

DUBOWITZ SYNDROME: A CHOLESTEROL METABOLISM DISORDER?

Yesilkaya E., Karaer K., Bideci A., Camurdan O., PERÇİN F. E., Cinaz P.
GENETIC COUNSELING , cilt.19, sa.3, ss.287-290, 2008 (SCI-Expanded) identifier identifier identifier

A case with bilateral radio-ulnar synostosis

Koc A., Kaymak A. O., Karaer K., ERGÜN M. A., AKSU T., PERÇİN F. E.
GENETIC COUNSELING , cilt.19, sa.2, ss.193-198, 2008 (SCI-Expanded) identifier identifier identifier

A girl with a mosaic ring chromosome 18

Ergün M. A., Koç A., Kan D., Karaer K., Gücüyener K., Perçin F. E.
Chromosome Research , cilt.15, ss.64-65, 2007 (SCI-Expanded)

Severe clinical manifestations with inv(3) (p24p13)dn in a girl

Karaer K., Koç A., Ergün M. A., Perçin F. E.
Chromosome Research , cilt.15, ss.55, 2007 (SCI-Expanded)

46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination?

Yirmibeş Karaoğuz M., Perçin F. E., Pala E., Biri A., Kan D., Koç A., et al.
Chromosome Research , cilt.15, ss.36, 2007 (SCI-Expanded)

A neonate with omphalocele and patent ductus arteriosus with a 46,XX,t(1;2)(q42;q32) karyotype

Kaymak A., Koç A., Erkal Ö., Ergün M. A., Perçin F. E.
Chromosome Research , cilt.15, ss.65, 2007 (SCI-Expanded)

Association of microsomal epoxide hydrolase gene polymorphism and pre-eclampsia in Turkish women

Pinarbasi E., PERÇİN F. E., Yilmaz M., Akgun E., Cetin M., ÇETİN A.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH , cilt.33, sa.1, ss.32-37, 2007 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

A boy with small supernumerary marker chromosome X identified by FISH.

Koc A., Karaoguz M., Pala E., Kan D., Karaer K., Guecueyener K., et al.
Genetic counseling (Geneva, Switzerland) , cilt.18, sa.4, ss.393-9, 2007 (SCI-Expanded) identifier identifier identifier

Lack of association between the CYP11B2 gene polymorphism and preeclampsia, eclampsia, and the HELLP syndrome in Turkish women

PERÇİN F. E., Cetin M., Pinarbasi E., Akgun E., Gurlek F., ÇETİN A.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY , cilt.127, sa.2, ss.213-217, 2006 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

A case with mosaic partial duplication of 1q: Prenatal and postmortem clinical and cytogenetic evaluations

Karaoguz M. Y., Biri A., Pala E., Kan D., Poyraz A., Kurdoglu M., et al.
GENETIC COUNSELING , sa.2, ss.197-204, 2006 (SCI-Expanded) Sürdürülebilir Kalkınma identifier identifier identifier

Floating-Harbor syndrome: A first female Turkish patient?

Karaer K., Karaoguz M. Y., ERGÜN M. A., Yesilkaya E., Bideci A., PERÇİN F. E.
GENETIC COUNSELING , cilt.17, sa.4, ss.465-468, 2006 (SCI-Expanded) identifier identifier identifier

Working Group Report on High Blood Pressure in Pregnancy Working Group Report on High Blood Pressure in Pregnancy, 2004

Çetin M., Pınarbaşı E., Perçin F. E., Akgün E., Perçin S., Pınarbaşı H., et al.
Journal Of Obstetrics And Gynaecology Research , cilt.31, sa.3, ss.236-241, 2005 (SCI-Expanded)

Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3

Malik S., Percin F. E., Ahmad W., Percin S., AKARSU A. N., Koch M., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A , sa.4, ss.404-408, 2005 (SCI-Expanded) identifier identifier identifier

No association of polymorphisms in the glutathione S-transferase genes with pre-eclampsia, eclampsia and HELLP syndrome in a Turkish population

Cetin M., Pinarbasi E., Percin F. E., Akgun E., Percin S., Pinarbasi H., et al.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH , cilt.31, sa.3, ss.236-241, 2005 (SCI-Expanded) identifier identifier identifier

Gingival fibromatosis, short stature, border-line IQ, facial dysmorphism and hepatomegaly

Marakoglu I., PERÇİN F. E., Gursoy U., Onarlioglu B., Ergur A.
GENETIC COUNSELING , cilt.16, sa.2, ss.161-165, 2005 (SCI-Expanded) identifier identifier identifier

Molecular and cytogenetic characterization of a female of hypoplasic external genitalia with a familial Y;21 translocation

Sezgin I., PERÇİN F. E., Guvenal T., Coskun A., Cakar E., Gul E., et al.
CHROMOSOME RESEARCH , cilt.13, ss.49-50, 2005 (SCI-Expanded) identifier

Spondyloepiphyseal dysplasia tarda with progressive arthropathy

Kaptanoglu E., Percin F. E., Percin S., Torel-Ergur A.
TURKISH JOURNAL OF PEDIATRICS , cilt.46, sa.4, ss.380-383, 2004 (SCI-Expanded) identifier identifier identifier

The co-existence of Treacher Collins syndrome and Klinefelter syndrome

Yilmaz S., PERÇİN F. E., Saydam M., Ozdemir O., Ercocen A.
PLASTIC AND RECONSTRUCTIVE SURGERY , cilt.114, sa.4, ss.1013-1014, 2004 (SCI-Expanded) identifier identifier identifier

Anencephalic infant with cleft palate and natal teeth: A case report

Marakoglu K., PERÇİN F. E., Marakoglu I., Gursoy U., Goze F.
CLEFT PALATE-CRANIOFACIAL JOURNAL , cilt.41, sa.4, ss.456-458, 2004 (SCI-Expanded) identifier identifier identifier

Camptomelic dysplasia syndrome

Perçin F. E., Törel Ergür A., Sezgin İ., Perçin S., Gültekin A.
Acta Orthopaedica Et Traumatologica Turcica , cilt.31, sa.1, ss.53-55, 2004 (SCI-Expanded)

Limb body wall defect associated with rare cardiac anomalies

Arici D., PERÇİN F. E., Ozer H., Aslan M., ÇETİN A.
PEDIATRICS INTERNATIONAL , cilt.46, sa.1, ss.85-87, 2004 (SCI-Expanded) identifier identifier identifier

A case with spondylo-metaphyseal dysplasia type A4

Percin E., Tukenmez M., Percin S.
GENETIC COUNSELING , cilt.15, sa.3, ss.363-369, 2004 (SCI-Expanded) identifier identifier identifier

Femoral-facial syndrome with hemifacial microsomia and hypoglossia

Duzcan F., Ergin H., PERÇİN F. E., Tepeli E., Erkula G.
CLINICAL DYSMORPHOLOGY , cilt.13, sa.1, ss.43-44, 2004 (SCI-Expanded) identifier identifier identifier

Congenital anomalies of the kidneys in family members

Çimen M., Acemoğlu M., Erdil S., Perçin F. E.
ANNALS OF SAUDI MEDICINE , cilt.23, sa.6, ss.425, 2003 (SCI-Expanded)

Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet

PERÇİN F. E., Yilmaz S.
CLINICAL DYSMORPHOLOGY , cilt.12, sa.4, ss.283-284, 2003 (SCI-Expanded) identifier

Two unusual types of syndactyly in the same family; Cenani-Lenz type and << new >> type versus severe type I syndactyly?

Percin E., Percin S.
GENETIC COUNSELING , cilt.14, sa.3, ss.313-319, 2003 (SCI-Expanded) identifier identifier identifier

A case with Pyle type Metaphyseal Dysplasia: Clinical, radiological and histological evaluation

Percin E., Percin S., Koptagel E., Demirel H.
GENETIC COUNSELING , cilt.14, sa.4, ss.387-393, 2003 (SCI-Expanded) identifier identifier identifier

First-trimester diagnosis of Robinow syndrome

Percin E., Guvenal T., Çetin A., Percin S., Goze F., Arici S.
FETAL DIAGNOSIS AND THERAPY , cilt.16, sa.5, ss.308-311, 2001 (SCI-Expanded) Creative Commons License identifier identifier identifier

A Case of Bisatellited-Isodicentric Supernumerary Chromosome 15

Süngü Y., Karaman B., Perçin F. E., Sezgin İ., Balcı S.
Turkish Journal Of Medical Sciences , cilt.31, ss.467-469, 2001 (SCI-Expanded) Creative Commons License

Homozygous null mutations of ROR2 tyrosine kinase cause the autosomal recessive form of Robinow syndrome.

Brunner H., Celli J., Kayserili H., van Beusekom E., Brussel W., Skovby F., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.67, sa.4, ss.40, 2000 (SCI-Expanded) identifier

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

van Bokhoven H., Celli J., Kayserili H., van Beusekom E., Balci S., Brussel W., et al.
NATURE GENETICS , cilt.25, sa.4, ss.423-426, 2000 (SCI-Expanded) identifier identifier identifier

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

PERÇİN F. E., Ploder L., Yu J., Arici K., Horsford D., Rutherford A., et al.
NATURE GENETICS , cilt.25, sa.4, ss.397-401, 2000 (SCI-Expanded) identifier identifier identifier

A Case of Partial Trisomy 13 Findings with 46,XX,der(7)t(7;13)(p22;q31)mat Karyotype

Perçin F. E., Süngü Y. S., Ilgın Ruhi H., Törel Ergür A., Düzcan F., Sezgin İ.
Turkish Journal Of Medical Sciences , cilt.30, ss.377-380, 2000 (SCI-Expanded) Creative Commons License

Waardenburg syndrome type I and small patella syndrome in the same patient

Percin E., Bulut S., Kunt T., Percin S., Bulut O., Sungu S.
PEDIATRICS INTERNATIONAL , cilt.41, sa.6, ss.704-706, 1999 (SCI-Expanded) identifier identifier identifier

A new locus for autosomal recessive Congenital Microphthalmia maps to 14q24.3 and caused by a homozygous mutation in the CHX10 gene.

PERÇİN F. E., Arici K., Horsford D., Kocak-Altintas A., Akarsu A., McInnes R., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.65, sa.4, 1999 (SCI-Expanded) identifier

Cloning and genomic structure of OTX2, a candidate gene for Congenital Microphthalmia.

Sarfarazi M., Stoilov I., PERÇİN F. E.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.65, sa.4, 1999 (SCI-Expanded) identifier

The role of CHX10 in eye development: human CHX10 mutations in microphthalmia and identification of Mitf as a CHX10 downstream target.

Horsford D., Ploder L., PERÇİN F. E., Yu J., Duncan A., Cox D., et al.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.65, sa.4, 1999 (SCI-Expanded) identifier

An infant with situs inversus totalis, branchial cleft cyst and ectopic kidney: a new combination?

Koyluoglu G., PERÇİN F. E.
CLINICAL DYSMORPHOLOGY , cilt.8, sa.3, ss.233-234, 1999 (SCI-Expanded) identifier identifier identifier

Mapping of autosomal recessive congenital microphthalmia and exclusion of linkage to 14q32

PERÇİN F. E., Kocak A., Arici K., Desai T., Akarsu A., Sarfarazi M.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , cilt.40, sa.4, 1999 (SCI-Expanded) identifier

Molecular genetic study of families with pseudoexfoliation syndrome (PEX) suggests two putative locations on 2p14-2Cen and 2q35-q36 regions

Sotirova V., Irkec M., PERÇİN F. E., Bladow K., Damji K., Sarfarazi M.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE , cilt.40, sa.4, 1999 (SCI-Expanded) identifier

Türk Populasyonunda Esteraz D ve ABO Polimorfizmi

Perçin F. E., Sezgin İ., Çolak A., Çınar Z.
Turkish Journal Of Biology , cilt.23, ss.31-38, 1999 (SCI-Expanded) Creative Commons License

A new combination: short stature, congenital unilateral absence of the fibula, oligodactyly and trigonocephaly

Percin E., Percin S.
CLINICAL DYSMORPHOLOGY , cilt.8, sa.1, ss.67-68, 1999 (SCI-Expanded) identifier identifier identifier

Chromosome 2 fragility- 48, XXYY syndrome

Özdemir Ö., Perçin F. E., Sezgin İ.
Turkish Journal Of Medical Sciences , cilt.29, ss.497-499, 1999 (SCI-Expanded) Creative Commons License

Chromosome 2 fragility in 48,XXYY syndrome: a case report

Ozdemir O., PERÇİN F. E., Sezgin I.
CYTOGENETICS AND CELL GENETICS , cilt.85, ss.159, 1999 (SCI-Expanded) identifier

ABO, Rh Blood Groups and Phosphoglucomutase 1 Enzyme Phenotypes in Individuals With Noninsulin Dependent Diabetes Mellitus

Perçin F. E., Göze İ. A., Çınar Z.
Turkish Journal Of Biology , cilt.23, ss.1-7, 1999 (SCI-Expanded) Creative Commons License Sürdürülebilir Kalkınma

A New Phenotype in the PhosphOĞLUcomutase 1 (PGM1) System, PGM1* W32

Perçin F. E., Göze İ. A.
Turkish Journal Of Medical Sciences , cilt.28, sa.6, ss.605-608, 1998 (SCI-Expanded) Creative Commons License

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: an unusual combination or homozygous expression of syndactyly type I?

Percin E., Percin S., Egilmez H., Sezgin I., Ozbas F., AKARSU A. N.
JOURNAL OF MEDICAL GENETICS , cilt.35, sa.10, ss.868-874, 1998 (SCI-Expanded) identifier identifier identifier

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: Homozygous feature of syndactyly type I?.

Percin E., Percin S., Egilmez H., Sezgin I., Ozbas F., Akarsu A.
AMERICAN JOURNAL OF HUMAN GENETICS , cilt.61, sa.4, 1997 (SCI-Expanded) identifier

Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: Homozygous feature of syndactyly type I?.

Perçin F. E., Perçin S., Eğilmez H., Sezgin İ., Özbaş F., Akarsu A. N.
American Journal Of Human Genetics , cilt.61, sa.4, ss.109, 1997 (SCI-Expanded)

Fanconi pancytopenia type I syndrome

Perçin F. E., Sezgin İ., Süngü S., Çolak A., Özdemir Ö.
CYTOGENETICS AND CELL GENETICS , cilt.77, sa.1, ss.267, 1997 (SCI-Expanded)

A 46,XX del(X)(p(22.1-22.2)) case relevant to its clinical findings.

Sungu S., PERÇİN F. E., Ozdemir O., Sezgin I.
CYTOGENETICS AND CELL GENETICS , cilt.77, 1997 (SCI-Expanded) identifier

Short stature and other clinical findings of a case with karyotype 46,XYdel(Y)(Q(11.2 similar to 12))+mar

Ozdemir O., PERÇİN F. E., Sezgin I., Sungu S., Colak A.
CYTOGENETICS AND CELL GENETICS , cilt.77, 1997 (SCI-Expanded) identifier

PGM1 Polymorphism and Rho (D) Incidence in the Turkish Population

Perçin F. E., Sezgin İ., Çolak A., Atalay A., Düzcan F., Çınar Z.
Turkish Journal Of Medical Sciences , cilt.26, ss.383-387, 1996 (SCI-Expanded)

A new syndrome with cardiac malformation, cleft lip-palate, microcephaly and digital anomalies?

Perçin F. E., Duzcan F., Kafali G., Sezgin I.
CLINICAL GENETICS , cilt.48, ss.264-267, 1995 (SCI-Expanded) identifier identifier identifier

Oral-Facial-Digital Syndrome-Type I Associated with Polycystic Kidney Disease: A Case Report.

Gültekin F., Sezgin İ., Türkay C., Dirikoç A., Perçin F. E.
Turkish Journal of Medical Sciences , cilt.16, ss.573-576, 1992 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler

EVALUATION OF MITOCHONDRIAL DNA MUTATIONS IN SIX FAMILIES BY RESEQUENCING ARRAY MİTOKONDRİYAL DNA MUTASYONLARININ TEKRAR DİZİLEME ARRAY YÖNTEMİ İLE ALTI AİLEDE DEĞERLENDİRİLMESİ

Kolbaşi Demircioğlu G., Güntekin Ergün S., Gücüyener K., PERÇİN F. E., ERGÜN M. A.
Istanbul Tip Fakultesi Dergisi , cilt.86, sa.1, ss.78-87, 2023 (Scopus) identifier identifier

A Novel Homozygous Frameshift Mutation in the PLCB4 Gene Associated with Auriculocondylar Syndrome 2 and Accompanied by Mild Intellectual Disability

Kayhan G., Kazan H. H., Öztürk K., Sezer A., Perçin F. E.
Türkiye Klinikleri Journal of Case Reports , cilt.30, sa.4, ss.258-262, 2022 (Hakemli Dergi)

Investigation of Submicroscopic Chromosomal Anomalies on Patients with Unexplained Intellectual Disabilities with Molecular Karyotyping

Saat H., Ergün M. A., Perçin F. E.
GAZI MEDICAL JOURNAL , cilt.33, sa.4, ss.375-380, 2022 (ESCI) Creative Commons License

Molecular karyotyping in anorectal malformations: Could DGCR6 gene haploinsufficiency cause anal atresia in 22q11 deletion syndrome?

ÖZYAVUZ ÇUBUK P., KAYHAN G., PERÇİN F. E.
ERCIYES MEDICAL JOURNAL , cilt.44, sa.3, ss.299-305, 2022 (ESCI) identifier identifier

Two new patients diagnosed with Trichothiodystrophy type 1

Sezer A., Kayhan G., Gücüyener K., Bideci A., Perçin F. E.
Gazi Medical Journal , cilt.31, sa.2, 2020 (ESCI)

Two patients with Epidemolisis Bullosa

SAVAŞ A., SEZER A., KAYHAN G., ADIŞEN E., PERÇİN F. E.
Gazi Medical Journal , cilt.31, sa.2, 2020 (ESCI)

A report of two siblings diagnosed with Cutis Laxa

GÜNDOĞDU ÖĞÜTLÜ Ö. B., SEZER A., DEMİRBAŞ M. H., KAYHAN G., PERÇİN F. E.
Gazi Medical Journal , cilt.31, sa.2, 2020 (ESCI)

A new approach (EDIZ) for big data variant prioritization

ERGÜN M. A., Ergun S. G., Percin E. F.
NETWORK MODELING AND ANALYSIS IN HEALTH INFORMATICS AND BIOINFORMATICS , cilt.8, sa.1, 2019 (ESCI) identifier identifier

Phenotypic contradictions: Dual effect.

Perçin F. E.
Erciyes Medical Journal , sa.41, ss.2-3, 2019 (Hakemli Dergi)

"Two siblings with a rare diagnosis, Raymond type X-linked syndromic mental retardation

Sezer A., Savaş A., Kazan H. H., Perçin F. E.
Erciyes Medical Journal , cilt.41, sa.1, ss.44-46, 2019 (Hakemli Dergi)

A combined oxidative phosphorylation deficiency 10 case in a non-consanguineous family.

Sezer A., Ergün M. A., Kayhan G., Perçin F. E.
Erciyes Medical Journal , cilt.41, ss.50-51, 2019 (Hakemli Dergi)

A rare form of interstitial deletion of chromosome 9q21.33q22.31: A case report

SEZER A., KAYHAN G., ERGÜN M. A., PERÇİN F. E.
Gazi Medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)

Diagnostic Yield of Molecular Karyotyping of Idiopathic Intellectual Disability Patients Ended with One Causative Anomaly; Duplication 9q34 Syndrome

Cavdarli B., Percin E. F., YİRMİBEŞ KARAOĞUZ M., ERGÜN M. A.
GAZI MEDICAL JOURNAL , cilt.30, sa.3, ss.252-257, 2019 (ESCI) Creative Commons License identifier identifier

Diagnostic yield of molecular karyotyping of idiopathic intellectual disability patients ended with one causative anomaliy: Duplication 9q34 syndrome

Çavdarlı B., PERÇİN F. E., YİRMİBEŞ KARAOĞUZ M., ERGÜN M. A.
GAZI MEDICAL JOURNAL , cilt.30, ss.252-257, 2019 (Scopus)

A new family with 3q27.3.3q29 interstitial deletion

KAYHAN G., SAVAŞ A., YİRMİBEŞ KARAOĞUZ M., PERÇİN F. E.
Gazi Medical Journal , cilt.30, sa.1, ss.32, 2019 (Scopus)

A new family with 3q27.3q29 İnterstitial Deletion

Kayhan G., Savaş A., Yirmibeş Karaoğuz M., Perçin F. E.
GAZI MEDICAL JOURNAL , cilt.30, sa.1, ss.1-101, 2019 (Scopus)

International Participated Erciyes Medical Genetics Days 2019A novel mutation in HECW2 gene resulting neurodevelopmental disorder with hypotonia, seizures, and absent language

DEMİRBAŞ M. H., ÖZBUDAK P., SERDAROĞLU A., PERÇİN F. E.
Erciyes Medical Journal , ss.25, 2019 (Hakemli Dergi) Creative Commons License

ADNP Gene in the Etiology of Syndromic Autism: A case report

SEZER A., KAYHAN G., ERGÜN M. A., PERÇİN F. E.
Gazi Medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)

The Pathogenic Role of Xp22.31 copy number variations and literarure review

KAYHAN G., ERGÜN M. A., PERÇİN F. E.
Gazi medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)

From Phenotype to Genotype

PERÇİN F. E.
Gazi Medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)

Deletion of the SOX3 Gene Causes Panhypopituitarism: A Case Report

KAYHAN G., DEMİRBAŞ M. H., PERÇİN F. E.
Gazi Medical Journal , cilt.30, sa.1, ss.1-101, 2019 (Scopus)

46 XX male syndrome with hypogonadotropic hypogonadism: A case report

Yalcin M. M., Ozkan C., Akturk M. Y., PERÇİN F. E., Altinova A., Karakoc A., et al.
NORTHERN CLINICS OF ISTANBUL , cilt.6, sa.3, ss.308-311, 2019 (ESCI) Creative Commons License identifier identifier

HAPLOINSUFFICIENCY OF ZNF462 GENE IN A PATIENT WITHINTERSTITIAL DELETION OF CHROMOSOME 9q

SEZER A., KAYHAN G., MERMER S., ERGÜN M. A., PERÇİN F. E.
Erciyes Medical Journal , cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)

Haploınsuffıcıency of ZNF462 gene ın a patıent wıth ınterstıtıal deletıon of chromosome 9q

Sezer A., Kayhan G., Mermer S., Ergün M. A., Perçin F. E.
ERCIYES TIP DERGISI , cilt.40, sa.2, ss.51, 2018 (Scopus)

Developıng a new screenıng kıt for determınatıon of spınal muscular atrophy carrıer patıents wıth real-tıme PCR method

Çavdarlı B., Dılek F. N., Guntekın Ergun S., ERGÜN M. A., PERÇİN F. E.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)

A PATIENT WITH TWO SYNDROMES DUE TO PATERNALUNIPARENTAL DISOMY OF CHROMOSOME 2 (pUPD2)RELATED WITH HOMOZYGOUS NOVEL MUTATIONS OF THERAB3GAP1 AND UNC80 GENES

PERÇİN F. E., KAYHAN G., SEZER A., KOÇ A., ERGÜN M. A.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)

A patıent wıth two syndromes due to paternal unıparental dısomy of chromosome 2 (pUPD2) related wıth homozygous novel mutatıons of the RAB3GAP1 and UNC80 genes

Perçin F. E., Kayhan G., Sezer A., Koc A., Ergün M. A.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, ss.69, 2018 (Hakemli Dergi)

Lethal multiple pterygıum syndrome related with RYR1 gene mutation

KAYHAN G., SEZER A., ÖZDEMİR H., ERGÜN M. A., BAYRAM M., YİRMİBEŞ KARAOĞUZ M., et al.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)

Lethal Multıple Pterygıum Syndrome related wıth RYR1 gene gene mutatıon

KAYHAN G., SEZER A., Ozdemır H., ERGÜN M. A., BAYRAM M., YİRMİBEŞ KARAOĞUZ M., et al.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)

A new method for analysıs of exome sequencıng data dependıng on varıant prıorıtızatıon

ERGÜN M. A., Unal A., Guntekın Ergun S., PERÇİN F. E.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, 2018 (Scopus)

Contrubutıon of the clınıcal and laboratory fındıngs for correct dıagnosıs

PERÇİN F. E.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.2, ss.57-112, 2018 (Scopus)

Holoprosencephaly: A Rare Finding in Mosaic Trisomy 9 Syndrome

Mermer S., Ozek M., Percin F. E., YİRMİBEŞ KARAOĞUZ M., BAYRAM M.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.1, ss.54-56, 2018 (ESCI) Creative Commons License identifier identifier

Comparison of the Diagnostic Accuracy of Next Generation Sequencing and Microarray Resequencing Methods for Detection of BRCA1 and BRCA2 Gene Mutations

Bahsi T., Ergun S. G., ERGÜN M. A., Percin E. F.
GAZI MEDICAL JOURNAL , cilt.29, sa.2, ss.116-118, 2018 (ESCI) Creative Commons License Sürdürülebilir Kalkınma identifier identifier

Kılavuzlar Eşliğinde Fetal Konjenital Anomaliler ve İlişkili Olduğu Sendromlar

PERÇİN F. E.
Türkiye Klinikleri Medical Genetics - Special Topics , cilt.3, sa.1, ss.58-62, 2018 (Hakemli Dergi)

Holoprocencephaly A rare finding in mosaic trisomy 9 syndrome

MERMER S., ÖZEK M. A., PERÇİN F. E., YİRMİBEŞ KARAOĞUZ M., BAYRAM M.
ERCIYES MEDICAL JOURNAL , cilt.40, sa.1, ss.54-56, 2018 (Hakemli Dergi)

A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization

Ergün M. A., Unal A., Güntekin Ergün S., Perçin F. E.
Informatics in Medicine Unlocked , cilt.8, ss.51-53, 2017 (Scopus) Creative Commons License

Thrombophilic Status of Extracted Fetal Tissues of Spontaneously Aborted Embroys. Spontan Abortus Embriyolarından Ekstrakte Edilen Fetal Dokuların Trombofilik Durumu

PALA E., YİRMİBEŞ KARAOĞUZ M., BALABANLI B., PERÇİN F. E., ERDEM A.
GAZI MEDICAL JOURNAL , cilt.28, sa.1, ss.35-38, 2017 (Scopus)

Diagnosis of the Genomic Imprinting Diseases by the Usage of Conventional and Molecular Analyses

Kaymak A. O., YİRMİBEŞ KARAOĞUZ M., GÜCÜYENER K., PERÇİN F. E.
GAZI MEDICAL JOURNAL , cilt.28, sa.3, ss.200-203, 2017 (ESCI) Creative Commons License identifier identifier

Thrombophilic Status of Extracted Fetal Tissues of Spontaneously Aborted Embroys

Pala E., YİRMİBEŞ KARAOĞUZ M., Balabanli B. K., PERÇİN F. E., ERDEM O. A.
GAZI MEDICAL JOURNAL , cilt.28, sa.1, ss.35-38, 2017 (ESCI) Creative Commons License identifier identifier

The fifth family with MACS syndrome

PERÇİN F. E., ÜNAL A., YALÇIN M. M.
Erciyes Medical Journal , cilt.38, sa.1, ss.17, 2016 (Hakemli Dergi)

Holoprocencephaly noted in a case of mosaic trisomy 9 syndrome

MERMER S., PERÇİN F. E., Özek A. M., YİRMİBEŞ KARAOĞUZ M.
Erciyes Medical Journal , cilt.38, sa.1, ss.46, 2016 (Hakemli Dergi)

Mutation spectrum of the VHL gene mutations

IŞIK E., Solmaz A. E., Atik S., ATİK T., ONAY H., PERÇİN F. E., et al.
Erciyes Medical Journal , cilt.38, sa.1, ss.14, 2016 (Hakemli Dergi)

Molecular cytogenetic characterization of a small supernumerary marker chromosome derived from chromosome 15

Tuğ E., Ergün M. A., Perçin F. E.
ERCIYES MEDICAL JOURNAL , cilt.38, sa.1, ss.35, 2016 (Hakemli Dergi) Sürdürülebilir Kalkınma

Clinical findings in patients with9q deletion encompasing the 9q21 11q21 32 region

Tuğ E., Ergün M. A., Perçin F. E.
ERCIYES MEDICAL JOURNAL , cilt.38, sa.1, ss.14, 2016 (Hakemli Dergi) Sürdürülebilir Kalkınma

A new case with mosaic trisomy 19q

ÜNAL A., KAYHAN G., YİRMİBEŞ KARAOĞUZ M., PERÇİN F. E.
Erciyes Medical Journal , cilt.38, sa.1, ss.32, 2016 (Hakemli Dergi)

Approach to Dysmorphic Patients

PERÇİN F. E.
Erciyes Tıp Dergisi/Erciyes Medical Journal , cilt.38, sa.1, ss.3, 2016 (Hakemli Dergi)

A case with 22q11 deletion syndrome and anal anomalies

ÖZYAVUZ ÇUBUK P., YİRMİBEŞ KARAOĞUZ M., PERÇİN F. E.
Erciyes Medical Journal , cilt.38, sa.1, ss.24, 2016 (Hakemli Dergi)

A female with Smith Fineman Myers syndrome

SAĞDIÇ S., PERÇİN F. E.
Erciyes Medical Journal , cilt.38, sa.1, ss.27, 2016 (Hakemli Dergi)

Investigation of CYP2D6 gene polymorphisms in Turkish Population

taşkın b., PERÇİN F. E., ERGÜN M. A.
Psychopharmacology Bulletin , cilt.46, sa.1, ss.67-72, 2016 (Scopus)

Poland Syndrome: A Case Report

Tos T., Karaman A., Perçin F. E., Koçak H.
HASEKI TIP BULTENI , cilt.49, sa.1, ss.37-38, 2011 (Scopus)

Karakteristik EEG bulgularına sahip Wolf Hirschhorn sendromlu bir olgu klinik ve moleküler sitogenetik tanı

Karaer K., Koç A., YİRMİBEŞ KARAOĞUZ M., Cansu A., PERÇİN F. E.
Türkiye Klinikleri J Pediatr , cilt.19, sa.2, ss.171-175, 2010 (Hakemli Dergi)

A case of Wolf-Hirschhorn syndrome with a characteristic EEG pattern; clinical and molecular cytogenetic diagnosis

Karaer K., Koç A., Yirmibeş Karaoğuz M., Perçin F. E., Cansu A.
Türkiye Klinikleri Pediatri Dergisi , cilt.19, sa.2, ss.171-175, 2010 (Scopus) Creative Commons License

A Turkish case with craniofrontonasal syndrome

Karaer K., Balkaner K., PERÇİN F. E.
Erciyes Tıp dergisi (Erciyes Medical Journal) , cilt.31, sa.4, ss.293-343, 2009 (Hakemli Dergi)

Trismus-pseudocamptodactyly sendrom (Hecht-Beals sendromu): Olgu raporu

Ataç M., Erkmen E., Yücel E., Perçin F. E.
ADO Journal of Clinical Sciences , cilt.2, sa.4, ss.258-262, 2008 (Hakemli Dergi)

Genetik araştırmaların etik yönüve bir örnek üzerinden bilgilendirilmiş gönüllü olur formu

ULUOĞLU C., AKARSU A. N., PERÇİN F. E.
DEÜ Tıp Fakültesi Dergisi , cilt.21, sa.3, ss.207-214, 2007 (Hakemli Dergi)

Farmakogenetik Derleme

PERÇİN F. E.
MİSED (Meslek içi sürekli eğitim dergisi), Türk Eczacılar Birliği Yayını , cilt.19, sa.20, ss.16-25, 2007 (Hakemsiz Dergi)

Türk populasyonunda Süperoksid dismutaz A (SODA) enziminin polimorfizmi, alel sıklığı ve aktivitesi

Perçin F. E., Siliğ Y., Göze İ., Çolak A., Atalay A.
Adli Tıp Dergisi , cilt.16, sa.2, ss.82-87, 2002 (Hakemli Dergi)

Türk populasyonunda ADA enziminin polimorfizmi ve allel sıklığı

Göze İ., Perçin F. E.
Türkiye Ekopatoloji Dergisi , cilt.7, sa.3, ss.71-74, 2001 (Hakemli Dergi)

Surgical risk factors in the Larsen s syndrome

Karakaş K., PERÇİN F. E., Perçin S.
Acta Orthopaedica Belgica , sa.66, ss.495-498, 2000 (Scopus)

Psödovaginal Perineoscrotal Hipospadiaslı Bir Olgu.

Perçin F. E., Süngü S., Sezgin İ., Şenocak F.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.21, sa.2, ss.152-154, 1999 (Hakemli Dergi)

İnsüline Bağımlı Olmayan Diabetik Bireylerde ABO, Rh Kan Grupları ve Fosfoglukomutaz 1 Enzim Fenotipleri

Perçin F. E., Göze İ. A., Çınar Z.
Turkish Journal of Biology , cilt.23, ss.1-7, 1999 (Hakemli Dergi) Creative Commons License Sürdürülebilir Kalkınma

45 X 46 XY Karyotipli Karma Gonadal Disgenezisli Bir Olgu

Süngü Y., PERÇİN F. E., SEZGİN İ., ÖZDEMİR Ö.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.21, sa.2, ss.149-151, 1999 (Hakemli Dergi)

Gonadal Disgenezis-Uterus Agenezis ile Birlikte Mozaik Ulrich Turner Sendromlu (46,XX/45,X) bir Olgu.

Sezgin İ., Özdemir Ö., Şencan M., Saygılı Ö., Altındiş S., Perçin F. E.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.20, sa.3, ss.241-245, 1998 (Hakemli Dergi)

Oromandibular Limb Hipogenesis Spectrum lu Bir Olgu

PERÇİN F. E., SEZGİN İ., Perçin S., ÖZDEMİR Ö.
ERCIYES MEDICAL JOURNAL , cilt.19, sa.4, ss.230-232, 1997 (ESCI)

Kamptomelik Displazi Sendromu

PERÇİN F. E., Ergür A., SEZGİN İ., Perçin S., Gültekin A.
Acta Ortophedica Traumatica Turcica , sa.31, ss.53-55, 1997 (Hakemli Dergi)

Rokitansky-Kuster-Hauser Sendromu (Bir Olgu Sunumu

Süngü S., Perçin F. E., Çetin M., Sezgin İ.
Jinekoloji ve Obstetri'de Yeni Görüş ve Gelişmeler , cilt.8, sa.1, ss.100-101, 1997 (Hakemli Dergi)

Seathre Chotzen Acrocephalopolysyndactyly type III Sendromlu bir Kız bir Erkek Kardeş

PERÇİN F. E., SEZGİN İ., ÖZDEMİR Ö.
ERCIYES MEDICAL JOURNAL , cilt.19, sa.4, ss.226-229, 1997 (ESCI)

Bardet-Biedl Sendromu

Perçin F. E., Süngü S., Topalkara A., Sezgin İ.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.18, sa.4, ss.320-323, 1996 (Hakemli Dergi)

Sivas Populasyonunda Akraba Evliliği Sıklığı ve İlk Evlenme Yaşı ile Eğitim Düzeyi Arasındaki İlişkiler

DÜZCAN F., SEZGİN İ., Çolak A., ÇINAR Z., PERÇİN F. E.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.17, sa.3, ss.157-161, 1995 (Hakemli Dergi)

Fryns Sendromu Olgu Sunumu

DÜZCAN F., EĞİLMEZ H. R., SEZGİN İ., Çakmaklı L., PERÇİN F. E.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.17, sa.2, ss.143-145, 1995 (Hakemli Dergi)

Sivas Populasyonunda Akraba Evliliği Sıklığı ve İlk Evlenme Yaşı ile Eğitim Düzeyi Arasındaki İlişkiler.

Düzcan F., Sezgin İ., Çolak A., Çınar Z., Perçin F. E.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.17, sa.3, ss.157-161, 1995 (Hakemli Dergi)

Unilateral Over Yokluğu ile Murks Birlikteliği: Olgu Sunumu

Sezgin İ., Düzcan F., Çetin A., Perçin F. E., Özkul B.
Jinekoloji ve Obstetrik Dergisi , cilt.9, ss.187-189, 1995 (Hakemli Dergi)

Larsen s Syndrome with Mixed Type Hearing Loos

PERÇİN F. E., Perçin S., SEZGİN İ., Akbaş K.
Acta Orthopaedica Belgica , cilt.60, sa.3, ss.328-331, 1994 (Scopus)

Multipl Ekzostoz Sendromu (Dört Olgu Nedeniyle).

Sezgin İ., Perçin F. E., Düzcan F., Perçin S.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.16, sa.1, ss.70-73, 1994 (Hakemli Dergi)

Poland Sendromu (Bir olgu nedeniyle).

Kafalı G., Toksoy H. B., Sezgin İ., Perçin F. E.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.15, sa.4, ss.276-279, 1993 (Hakemli Dergi)

Rubinstein-Taybi Sendromu (Bir Olgu Nedeniyle)

Türkay S., Sezgin İ., Perçin F. E.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi , cilt.15, sa.1, ss.64-68, 1993 (Hakemli Dergi)

Progeria Sendromu ( Bir Olgu Nedeniyle).

DÜZCAN F., SEZGİN İ., PERÇİN F. E., Gültekin A.
Ege Tıp Dergisi , cilt.31, sa.3, ss.515-517, 1992 (Hakemli Dergi)

Progeria Sendromu ( Bir Olgu Nedeniyle)

Düzcan F., Sezgin İ., Perçin F. E., Gültekin A.
Ege Tıp Dergisi , cilt.31, sa.3, ss.515-517, 1992 (Hakemli Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

FATCO sendromlu iki olgu

Urtekin E., Gündoğdu Öğütlü Ö. B., Kayhan G., Perçin F. E.
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.1

Kriptooftalminin Eşlik Etmediği Fraser Sendromlu Olguda Yeni Bir Varyant

Gündoğdu Öğütlü Ö. B., Kayhan G., Perçin F. E.
7. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 26 - 28 Mayıs 2022, ss.143

Olgu Sunumu: U2AF2'de c.445C>T varyantı saptanan nörogelişimsel gerilikli bir hasta

Demirbaş M. H., Kayhan G., Perçin F. E.
7. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 26 - 28 Mayıs 2022, ss.134

Tüm ekzom dizileme yapılan 602 hastada insidental olarak saptanan kanser yatkınlığı mutasyonlarının sıklığı

Kayhan G., Demirbaş H., Sezer A., Savaş A., Kara B. Ç., Ergün M. A., et al.
1. Ulusal HematoOnkoGenetik Kongresi, Antalya, Türkiye, 25 - 28 Kasım 2021, ss.177 Creative Commons License Sürdürülebilir Kalkınma

Genom-Wide association and whole Exome Sequencing Studies reveal a Novel Candidate Locus for Restless Legs Syndrome

Ergün U., Say B., Güntekin Ergün S., Perçin F. E., İnan L., Kaygısız Ş., et al.
ESHG2021- Virtual Conference, 28 - 30 Ağustos 2021, ss.1 Creative Commons License

Hipokalsemi ve kırık ile başvuran bir hastada saptanmış diGeorge Sendromu: olgu sunumu

Durmuş Demirel K., Yalçın M. M., Baloş Tuncer B., Perçin F. E., Eroğlu Altınova A., Törüner F. S., et al.
42. Türkiye Endokrinoloji ve Metabolizma Hastalıkları Kongresi, 19 - 23 Mayıs 2021, ss.543

An infant with two de novo variants causing recessive and dominant disorders: Diagnostic challenge

Sezer A., Gündoğdu Öğütlü Ö. B., Türkyılmaz Z., Gücüyener K., Kayhan G., Perçin F. E.
53rd European Society of Human Genetics (ESHG), Berlin, Almanya, 6 - 09 Haziran 2020, cilt.28, ss.98-99 Creative Commons License

The first patient with mesomelic dysplasia and urogenital abnormalities associated with a de novo heterozygous variant in HOXA11 gene

Sezer A., Perçin F. E., Kazan H. H., Kayhan G., Aktürk M. Y.
53rd European Society of Human Genetics (ESHG), Berlin, Almanya, 6 - 09 Haziran 2020, cilt.28, ss.466 Creative Commons License

Thauvin-Robinet-Faivre Syndrome: Report of a new patient

Sezer A., Savaş A., Kayhan G., Aslan A., Perçin F. E.
53rd European Society of Human Genetics (ESHG), Berlin, Almanya, 6 - 09 Haziran 2020, cilt.28, ss.366 Creative Commons License

Gazi Üniversitesi Tıp Fakültesi Tıbbi Genetik Anabilim Dalı’nda incelenen santral hipogonadizmli hastaların tüm ekzom dizileme (WES) analizi sonuçları

Demirbaş M. H., Kayhan G., Cinaz P., Yalçın M. M., Döğer E., Perçin F. E.
14. Ulusal Tıbbi Genetik Kongresi, Ankara, Türkiye, 20 - 22 Kasım 2020, cilt.31, ss.55 Creative Commons License

Atipik Bulgularla Gelen Bir DiGeorge Sendromu Olgusu

Küpçü Z., Döğer E., Perçin F. E., Kayhan G., Bideci A., Çamurdan M. O., et al.
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.37, ss.192 Sürdürülebilir Kalkınma

8p 11.2 delesyonu: FGFR1 ve ANK1 komşu gen sendromu

Bideci A., Döğer E., Küpçü Z., Aslan D., Arhan E., Perçin F. E., et al.
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.1, ss.205

SHOX gen enhancer heterozigot delesyonuna bağlı Leri Weill Sendromu

Döğer E., Küpçü Z., Çamurdan M. O., Bideci A., Kayhan G., Perçin F. E., et al.
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.27, ss.183

NPR2 Heterozigot Mutasyonuna Bağlı Boy Kısalığı

Küpçü Z., Döğer E., Bideci A., Perçin F. E., Kayhan G., Çamurdan M. O., et al.
XXIV. Ulusal Pediatrik Endokrinoloji & Diyabet Kongresi, Ankara, Türkiye, 30 Ekim - 01 Kasım 2020, cilt.1, sa.23, ss.179

A STUDY FROM TURKEY: IDENTIFICATION OF COPY NUMBER VARIANTS IN CHILDREN AND ADOLESCENTS WITH AUTISM SPECTRUM DISORDER

ÖZASLAN A., KAYHAN G., İŞERİ E., ERGÜN M. A., GÜNEY E., PERÇİN F. E.
67th Virtual Annual Meeting of the American-Academy-of-Child-and-Adolescent-Psychiatry (AACAP), ELECTR NETWORK, 12 - 24 Ekim 2020, cilt.59 identifier

A patient with two de novo variants, one causes recessive and other causes dominant disorder

Sezer A., Gündoğdu Öğütlü Ö. B., Türkyılmaz Z., Gücüyener K., Kayhan G., Perçin F. E.
V. International Participated Erciyes Medical Genetics Days Congress, Nevşehir, Türkiye, 20 - 22 Şubat 2020, ss.50 Creative Commons License

LRP5 Gen Mutasyonuna Bağlı Ortaya Çıkan Osteoporosis Pseudoglioma Sendromu

GÜNTEKİN ERGÜN S., GÜMÜŞ AKAY G., ERGÜN M. A., PERÇİN F. E., DİNÇER P. R.
2. GenetikteGüncel Tedaviler Sempozyumu, Türkiye, 05 Ekim 2019

Herediter Sapastik Parapleji: 6 olgu sunumu

Menderes D., Erçelebi H., Özbudak P., Sezer A., Perçin F. E., Demir E., et al.
3. Nöromusküler Hastalıklar Kongresi, İzmir, Türkiye, 1 - 03 Kasım 2019, ss.25 Creative Commons License

WES analizi ile otozomal resesif herediter spastik parapleji tanısı alan altı yeni hasta

Sezer A., Kayhan G., Gücüyener K., Erçelebi H., Cengiz B., Ergün M. A., et al.
3. Nöromusküler Hastalıklar Kongresi, İzmir, Türkiye, 1 - 03 Kasım 2019, ss.122-123 Creative Commons License

A rare etiology of epileptic encephalopathy: HECW2 mutations

Demirbas M. H., Ozbudak P., Serdaroglu A., Ergun M. A., Percin E. F.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, İsveç, 15 - 18 Haziran 2019, cilt.27, ss.1435 identifier

Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient

Percin E. F., Kayhan G., Sezer A., Koc A., Ergun M. A.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.384-385 identifier

A mosaic double aneuploidy: mos 45,X/47,XX,+18/46,XX with mild phenotype

Demirbas M. H., Habiloglu E., Ergun M. A., Percin E. F., Yirmibes-Karaoguz M.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.996 identifier

Copy number variation analysis in autism spectrum disorders

Kayhan G., Guney E., Iseri E., Ergun M. A., Percin E. F.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.259 identifier

A new approach (EDIZ) for Big Data Variant Prioritization

ERGÜN M. A., GÜNTEKİN ERGÜN S., PERÇİN F. E.
13th balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019

KONJENİTAL JENERALİZE LİPODİSTROFİ TİP 4 - CAVIN1 GENİNDEYENİ MUTASYON

DÖĞER E., SEZER A., KILINÇ UĞURLU A., DEMET AKBAŞ E., PERÇİN F. E., BİDECİ A., et al.
3. Ege Endokrin Hastalıklar ve Genetik Sempozyumu, İzmir, Türkiye, 7 - 09 Mart 2019

The pathogenic role of Xp22.31 copy number variations and literature review

KAYHAN G., ERGÜN M. A., PERÇİN F. E.
13. ulusal tıbbi genetik kongresi, Türkiye, 7 - 10 Kasım 2018

A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization

Ergun M. A., Unal A., Ergun S. G., Percin F. E.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.998 identifier

Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?

Kayhan G., Torun D., Unal A., Ergun M. A., Percin F. E.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.466 identifier

A novel RYR 1 gene mutation in a patient with severe central core disease

Percin F. E., Kayhan G., Ergun M. A.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.423-424 identifier

Molecular karyotyping in ten patients with isolated anorectal malformation

Cubuk P. O., Percin E. F., Kayhan G.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Danimarka, 27 - 30 Mayıs 2017, cilt.26, ss.196 identifier

Copy number variation analysis in autism spectrum disorders

KAYHAN G., GÜNEY E., İŞERİ E., ERGÜN M. A., PERÇİN F. E.
european human genetics conference, 16 - 20 Haziran 2018

A mosaic double aneuploidy: mos 45,X/47,XX,18 with mild phenotype

DEMİRBAŞ M. H., HABİLOĞLU E., ERGÜN M. A., PERÇİN F. E., YİRMİBEŞ KARAOĞUZ M.
European Human Genetics Conference, Milano, İtalya, 16 - 19 Haziran 2018

Dual overlapping phenotype recessively inherited due to paternal uniparental disomy of chromosome 2(pUPD2) in a patient

Perçin F. E., Kayhan G., Sezer A., Koç A., Ergün M. A.
51st Conference of Theocharis European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.384-385

P09.023C / C - Copy number variation analysis in autism spectrum disorders

KAYHAN G., GÜNEY E., İŞERİ E., ERGÜN M. A., PERÇİN F. E.
ESHG 2018, 16 - 19 Haziran 2018

IS HYPOPIGMENTED SKIN PATCH A NEW SYMPTOM OFROBERTS / SC PHOCOMELIA SYNDROME?

SEZER A., KAYHAN G., SARI S., PERÇİN F. E.
Erciyes Medical Genetics Days 2017, Kayseri, Türkiye, 11 - 13 Mayıs 2017, cilt.39, ss.48

P11.034B/B - Duplication of HTR 7 gene in a patient: Is it a possible cause of autism and congenital cataract ?

KAYHAN G., Torun D., ÜNAL A., ERGÜN M. A., PERÇİN F. E.
European Human Genetics Conference, Cophenhagen, Denmark, 27 - 30 Mayıs 2017

P03.02B/B - Molecular karyotyping in ten patients with isolated anorectal malformation

Özyavuz Çubuk P., PERÇİN F. E., KAYHAN G.
European Human Genetics Conference, Cophenhagen, Denmark, 27 - 30 Mayıs 2017

P10.07C/C - A novel RYR 1 gene mutation in a patient with severe central core disease

PERÇİN F. E., KAYHAN G., ERGÜN M. A.
European Human Genetics Conference Copenhagen, Denmark, May 27-30, 2017, 27 - 30 Mayıs 2017

E-P16.30 - A new method for analysis of whole exome sequencing data (SELIM) depending on variant prioritization

ERGÜN M. A., Unal A., Güntekin S., PERÇİN F. E.
European Human Genetics Conference Cophenagen, Denmark, 27 - 30 Mayıs 2017

5q14 3 delesyonlu yeni bir olgu

Mermer S., Kayhan G., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.268 Creative Commons License

Entellektüel yetersizlik ve veya konjenital anomalisi olan hastalarda array CGH sonuçlarının değerlendirilmesi

Kayhan G., Ergün M. A., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.261 Creative Commons License

Primer amenoreli olguda array CGH yöntemi ile parsiyel Xp duplikasyonu ve Xq delesyonu saptanması

Saat H., Kayhan G., Ergün M. A., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics, Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.131 Creative Commons License

The Relation between micropenis in childhood and CAG with GGN repeat polymorphisms in the androgen reseptor gene

Tuğ E., Güntekin Ergün S., Ergün M. A., Dilek F. N., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.261 Creative Commons License

Sendromik olmayan anorectal malformasyonlu olgularda array CGH sonuçlarının analizi

Özyavuz Çubuk P., Kayhan G., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.366 Creative Commons License

BRCA1 ve BRCA2 mutasyonlarının araştırılımasında yeni nesil moleküler yöntem sonuçlarının konvansiyonel dizi analizi yöntemi ile karşılaştırılması

Bahsi T., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.365 Creative Commons License

Sebebi açıklanamayan mental retardasyonlu ve veya dismorfik hastalarda array CGH yöntemi ile submikroskobik kromozomal değişikliklerin araştırılması

Saat H., Ergün M. A., Perçin F. E.
12th National Medical Genetics Congress of Turkish Sciety of Medical Genetics (with international participation), Aydın, Türkiye, 5 - 09 Ekim 2016, cilt.2, ss.258 Creative Commons License

LRP5 linked Osteoporosis Pseudoglioma syndrome mimicking isolated microphthalmia

Ergun Guntekin S., Ergün M. A., Akay Gumus G., Akarsu A. N., Perçin F. E.
ESHG 2016, Barcelona, İspanya, 20 - 24 Mayıs 2016, ss.347 Creative Commons License

A new submicroscopic duplication of the 8q24 3 region is a potential candidate for disorders of sex development

Dilek F., Perçin F. E., Kayserili Karabey H., Ergün M. A., Saka N.
ESHG 2016, Barcelona, İspanya, 20 - 24 Mayıs 2016, ss.120-121 Creative Commons License

The 3rd W522X mutation in EIF2AK3 gene from Turkey a new patient with Wolcott Rallison syndrome

Unal A., Bahsi T., Bakır A., Perçin F. E.
ESHG 2016, Barcelona, İspanya, 20 - 24 Mayıs 2016, ss.327 Creative Commons License

Identification of a heterozygous BUB1B mutation in a family with mosaic variegated aneuploidy syndrome

Kayhan G., Ergün M. A., Perçin F. E.
ESHG 2016, Barcelona, İspanya, 20 - 24 Mayıs 2016, ss.342 Creative Commons License

Additional findings in the Matthew Wood syndrome

Ozyavuz Cubuk P., Ho L., Reversade B., Perçin F. E.
ESHG 2016, Barcelona, İspanya, 20 - 24 Mayıs 2016, ss.340 Creative Commons License

Molecular Cytogenetic Characterization of A Small Supernumerary Marker Chromosome Derived From Chromosome

TUĞ E., ERGÜN M. A., PERÇİN F. E.
15. Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik Uygulamaları Kongresi, 11 Mayıs 2017, cilt.38, ss.35-25

Evaluation of polymorphisms in GST enzymes in Turkish children with ALL

KAYA Z., YAZICIOĞLU B., GÜNTEKİN S., PERÇİN F. E., KOÇAK Ü., YENİCESU İ.
10th biennial childhood leukemia symposium, 25 - 26 Nisan 2016

Frequencies of folate related gene polymorphisms and relationships with high dose MTX related toxicity and prognosis in Turkish children with ALL

KAYA Z., YAZICIOĞLU B., GÜNTEKİN S., PERÇİN F. E., KOÇAK Ü., YENİCESU İ.
10 TH BİENNİAL CHİLDHOOD SYMPOSİUM, 25 - 26 Nisan 2016

Clinical Findings in Patients with 9q Deletion Encompassing the 9q21.11q21.32 Region.

TUĞ E., ERGÜN M. A., PERÇİN F. E.
Erciyes Medical Journal 2016; 38 (3):14., 15 Mart 2016

Gelişme geriliği ve epilepsisi olan birolguda array CGH sonucu

KAYHAN G., ERGÜN M. A., PERÇİN F. E.
3. Nörometabolik dismorfoloji sempozyumu, çeşme, Türkiye, 10 - 12 Mart 2016

Entellektüel Yetersizlik ve Epilepsinin Eşlik ettiği 2 Olguda Array CGH Sonuçları

Kayhan G., Ergün M. A., Perçin F. E.
3. Nörometabolik Dismorfoloji Sempozyumu, İstanbul, Türkiye, 10 - 12 Mart 2016 Creative Commons License

Approach to the Dysmorphic Patient

Perçin F. E.
Gevher Nesibe Tıp Günleri 2016 "Tıbbi Genetik ve Klinik Uygulamaları Kongresi", Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.3 Creative Commons License

Holoprocencephaly noted in case of Mosaic Trisomy 9 Syndrome

Mermer S., Perçin F. E., Özek A. M., Bayram M., Yirmibeş Karaoğuz M.
Medical Genetics and Clinical Applications, Erciyes Medical Journal, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.46 Creative Commons License

A New Case with Mosaic Trisomy 19Q

Ünal A., Kayhan G., Yirmibeş Karaoğuz M., Perçin F. E.
Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.32 Creative Commons License

A Case with 22q11 deletion Syndrome and Anal Anomalies

Özyavuz Çubuk P., Yirmibeş Karaoğuz M., Perçin F. E.
Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.24 Creative Commons License

Molecular Cytogenetic Characterization of a Small Supernumerary Marker Chromosome Derived from Chromosome 15

Tuğ E., Ergün M. A., Perçin F. E.
Medical genetic and Clinical Applications, Erciyes Medical Journal, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.35 Creative Commons License

The Fifth Family with MACS syndrome

Perçin F. E., Ünal A., Yalçın M. M.
Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.17 Creative Commons License

Mutation Spectrum of the VHL Gene Mutations

Işık E., Solmaz A. E., Atik S., Atik T., Onay H., Perçin F. E., et al.
Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.14 Creative Commons License

MECP2 Duplication Syndrome with Additional Findings

Tuğ E., Ergün M. A., Perçin F. E.
Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.35 Creative Commons License

A Female Patient with Smith Fineman Myers Syndrome

Sağdıç S., Perçin F. E.
Medical Genetics and Clinical Applications, Kayseri, Türkiye, 11 - 13 Şubat 2016, cilt.38, ss.27 Creative Commons License

Nadir Hastalıklara Yaklaşım

Perçin F. E.
T.C. Sağlık Bakanlığı Ankara Numune Hastanesi “Nadir Hastalıklar Sempozyumu”, Ankara, Türkiye, 29 Şubat 2016

Spotlight on the pathogenesis of Kabuki syndrome

Bögershausen N., Tsai I. C., Pohl E., Şimşek Kiper P. Ö., Beleggia F., Perçin F. E., et al.
European Human Genetics Conference - ESHG 2015, Glasgow, Scotland, UK, Glasgow, İngiltere, 6 - 09 Haziran 2015 Creative Commons License

Primary amenorrhea visual impairment and intellectual disability in a girl with a complex rearrangement involving 5q33 3 and 9q21 2 microdeletions

Kayhan G., Ergün M. A., Thomas L., Yirmibeş Karaoğuz M., Perçin F. E.
European Human Genetics Conference –ESHG 2015, Glasgow, İngiltere, 6 - 09 Haziran 2015 Creative Commons License

T102C and 1438 G A Polymorphisms of The Serotonin 2A Receptor Gene in Etiology and Course of Attention Deficit Hyperactivity Disorder

Güney E., İşeri E., Güntekin Ergün S., Perçin F. E., Ergün M. A., Yalçın Ö., et al.
6th International Congress on Psychopharmacology & 2nd International Symposium on Child and Adolescent Psychopharmacology, Antalya, Türkiye, 16 - 20 Nisan 2014, ss.1

A case with Michelin Tire Baby Syndrome

TUĞ E., ATASOY H. İ., PERÇİN F. E.
6th Istanbul Dysmorphology Days, 03 Nisan 2013

Erken başlangıçlı Cockayne sendromu

TUĞ E., PERÇİN F. E.
2. Nörometabolik Dismorfoloji Sempozyumu, 08 Mart 2013

Nance Horan Sendromlu bir Türk ailede yeni bir mutasyon

TUĞ E., DİLEK F. N., Javadiyan S., Burdon K., PERÇİN F. E.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012

Parsiyel monozomi 12p13.33→p13.33 ve parsiyel trizomi 11q14.1→q25’li bir olguda moleküler karyotipleme: Literatürün gözden geçirilmesi.

TUĞ E., YİRMİBEŞ KARAOĞUZ M., KAYHAN G., ERGÜN M. A., PERÇİN F. E.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012

9q subtelomerik delesyonlu bir olgu: Ek bulguları ile

TUĞ E., ÇAVDARLI B., YİRMİBEŞ KARAOĞUZ M., PERÇİN F. E.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012

Chromosomal Array AnalysisReveals Partial 11q Duplication and Partial 12p Deletion in A Mildly Affected Case

TUĞ E., YİRMİBEŞ KARAOĞUZ M., KAYHAN G., ERGÜN M. A., PERÇİN F. E.
10. Ulusal tıbbiGenetik Kongresi, Bursa, 2012., Bursa, Türkiye, 18 - 22 Aralık 2012

Radioulnar Sinostoz Amegakaryositik Trombositopenili Bir Aile

Kayhan G., Ergün M. A., Koçak Eker H., Perçin F. E.
10. Ulusal Tıbbi Genetik Kongresi, Bursa, 2012, Bursa, Türkiye, 18 - 22 Aralık 2012, ss.156 Creative Commons License

Kromozomal yeniden düzenlenmelerde moleküler karyotipleme ile genotip fenotip ilişkisinin belirlenmesi

KAYHAN G., ERGÜN M. A., YİRMİBEŞ KARAOĞUZ M., PERÇİN F. E.
11. Ulusal Tıbbi genetil Kongresi, İstanbul, Türkiye, 24 - 27 Eylül 2014

Oküloektodermal sendromlu bir olgu

MERMER S., KAYHAN G., PERÇİN F. E.
11. Ulusal Tıbbi genetik Kongresi, İstanbul, İstanbul, Türkiye, 24 Eylül 2014 - 27 Eylül 2012

Dopamine D4 Receptor Gene and Attention Deficit Hyperactivity Disorder A Follow up Study

Güney E., İşeri E., Güntekin S., Ergün M. A., Perçin F. E.
International Association for child and adolescent psychiatry and allied professions (IACAPAP) 2012 - 20th World congress, Paris, Fransa, 21 - 25 Temmuz 2012, cilt.60, sa.5, ss.264 Creative Commons License

Microphthalmia

PERÇİN F. E.
European Biotechnology Congress, İstanbul, Türkiye, 28 Eylül - 01 Ekim 2011, cilt.22 identifier

Three cases with Noonan Syndrome

Kayhan G., Perçin F. E.
5th Istanbul Dysmorphology Days İstanbul, İstanbul, Türkiye, 29 - 30 Nisan 2011, ss.28 Creative Commons License

Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.

TUĞ E., PERÇİN F. E., PALA E., BAYSOY G.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, Clinical Genetics, 01 Ekim 2010, cilt.78, ss.15

2q37 delesyonlu bir olgu

Kayhan G., Erkal Ö., Demir E., Yirmibeş Karaoğuz M., Perçin F. E.
Endokrinoloji ve Genetik Sempozyumu, Bolu, Türkiye, 8 - 10 Eylül 2009, ss.107 Creative Commons License

De Novo Inv Dup Del (8p) Olan Dismorfik Bir Vakanın Sunumu.

ERGÜN M. A., KARAER K., TUĞ E., KOÇ A., PERÇİN F. E.
VIII. Ulusal Tıbbi Genetik Kongresi, 06 Mayıs 2008

Gastrointestinal side effects of citalopram related with MDR1 gene G2677T polymorphism

ÖZBEY G., YÜCEL B., ERDOĞAN S., KAN D., EREN N., ARSLAN T., et al.
8th Congress of the European Associations for Clinical Pharmacology and Therapeutics, Hollanda, 29 Ağustos - 01 Eylül 2007, cilt.101, ss.51-102

Spondylocostal Dysostosis e Eşlik Eden Tip 1 SCM Olgu Sunumu

Yılmaz M. B., Kurt G., Perçin F. E., Baykaner M. K.
Türk Nöroşirürji Derneği 21. Bilimsel Kongresi, Türk Nöroşirürji Dergisi, Antalya, Türkiye, 20 - 24 Nisan 2007, cilt.17, ss.87 Creative Commons License

46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination?

Karaoguz M. Y., PERÇİN F. E., Pala E., Biri A., Kan D., Koc A., et al.
6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.36 identifier

A girl with a mosaic ring chromosome 18

Ergun M., Koc A., Kan D., Karaer K., Gucuyener K., PERÇİN F. E.
6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.64-65 identifier

Severe clinical manifestations with inv(3) (p24p13)dn in a girl

Karaer K., Koe A., Ergun M. A., PERÇİN F. E.
6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.55 identifier

A neonate with omphalocele and patent ductus arteriosus with a 46,XX,t(1;2)(q42;q32) karyotype

Kaymak A., Koc A., Erkal O., Ergun M. A., PERÇİN F. E.
6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.65 identifier
Kitap & Kitap Bölümleri

Robinow Sendromu: Klinik ve Moleküler Özellikleri

Perçin F. E.
Genetik ve Dismorfoloji- "Balcı Sendromu"- 2022, Semerci Gündüz, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.15-23, 2022 Creative Commons License

İskelet Displazilerinde Tedavi

Perçin F. E.
İskelet Displazileri, İlhan Sezgin, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.90-96, 2019 Creative Commons License

Kılavuzlar Eşliğinde Fetal Konjenital Anomaliler ve İlişkili Olduğu Sendromlar

Perçin F. E.
Dünden Bugüne Prenatal Tanı, Meral Yirmibeş Karaoğuz, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.58-62, 2018 Creative Commons License

Dismorfik hastaya yaklaşım

Perçin F. E.
Tıbbi Genetik ve Klinik Uygulamaları, Munis Dündar, Editör, MGrup Matbacılık Kayseri, Kayseri, ss.649-683, 2016
Metrikler

Yayın

329

Atıf (WoS)

1541

H-İndeks (WoS)

17

Atıf (Scopus)

1623

H-İndeks (Scopus)

18

Atıf (Scholar)

171

H-İndeks (Scholar)

7

Atıf (TrDizin)

7

H-İndeks (TrDizin)

2

Atıf (Diğer Toplam)

13

Proje

35

Tez Danışmanlığı

12

Açık Erişim

40
BM Sürdürülebilir Kalkınma Amaçları