SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Pitt-Hopkins syndrome accompanying hypoxic ischemic encephalopathy in a newborn
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
, cilt.82, sa.5, ss.458-462, 2022 (SCI-Expanded)
Genome-Wide Association and Whole Exome Sequencing Studies reveal a Novel Candidate Locus for Restless Legs Syndrome
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.30, sa.SUPPL 1, ss.297-298, 2022 (SCI-Expanded)
An infant with two de novo variants causing recessive and dominant disorders: Diagnostic challenge
EUROPEAN JOURNAL OF HUMAN GENETICS
, cilt.28, ss.895, 2020 (SCI-Expanded)
A rare etiology of epileptic encephalopathy: HECW2 mutations
European Journal Of Human Genetics
, cilt.27, ss.1435, 2019 (SCI-Expanded)
A case of panhipopituitarism with SOX3 gene deletion
HORMONE RESEARCH IN PAEDIATRICS
, ss.179, 2019 (SCI-Expanded)
Congenital generalized lipodystrophy type 4-New mutation in the CAVIN1 gene
HORMONE RESEARCH IN PAEDIATRICS
, ss.303-304, 2019 (SCI-Expanded)
Dual overlapping phenotype recessively inherited due to paternal unipaternal disomy of chromosome 2 (pUPD2) in a patient
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
European Journal Of Human Genetics
, cilt.27, ss.996, 2019 (SCI-Expanded)
A novel RYR 1 gene mutation in a patient with severe central core disease
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
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 ?
European Journal Of Human Genetics
, cilt.26, ss.466, 2018 (SCI-Expanded)
Polymorphisms in the Growth Differentiation Factor 5 (GDF 5) Gene in Knee Osteoarthritis
JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
, cilt.27, sa.10, ss.602-605, 2017 (SCI-Expanded)
Rectal duplications accompanying rectovestibular fistula: report of two cases.
Pediatrics international : official journal of the Japan Pediatric Society
, cilt.55, sa.4, 2013 (SCI-Expanded)
Microphthalmia
Current Opinion In Biotechnology
, cilt.22, ss.27, 2011 (SCI-Expanded)
JAK2 V617F MUTATION IN HEMATOLOGICAL DISORDERS IN TURKISH POPULATION: C04
Clinical Genetics
, cilt.78, ss.4, 2010 (SCI-Expanded)
A CASE WITH PARTIAL TRISOMY 4Q (Q25-QTER): X42
Clinical Genetics
, cilt.78, ss.42, 2010 (SCI-Expanded)
THREE SISTERS WITH PACHYDERMOPERIOSTOSIS: A16
Clinical Genetics
, cilt.78, ss.16, 2010 (SCI-Expanded)
A CASE WITH CEREBRO-FACIO-THORACIC DYSPLASIA: A15
Clinical Genetics
, cilt.78, ss.15, 2010 (SCI-Expanded)
A girl with a mosaic ring chromosome 18
Chromosome Research
, cilt.15, ss.64-65, 2007 (SCI-Expanded)
Severe clinical manifestations with inv(3) (p24p13)dn in a girl
Chromosome Research
, cilt.15, ss.55, 2007 (SCI-Expanded)
46,XX karyotypes of abortion materials; due to pregnancy losses or maternal cell contamination?
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
Chromosome Research
, cilt.15, ss.65, 2007 (SCI-Expanded)
Lack of association between the CYP11B2 gene polymorphism and preeclampsia, eclampsia, and the HELLP syndrome in Turkish women
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
, cilt.127, sa.2, ss.213-217, 2006 (SCI-Expanded)
Working Group Report on High Blood Pressure in Pregnancy Working Group Report on High Blood Pressure in Pregnancy, 2004
Journal Of Obstetrics And Gynaecology Research
, cilt.31, sa.3, ss.236-241, 2005 (SCI-Expanded)
Molecular and cytogenetic characterization of a female of hypoplasic external genitalia with a familial Y;21 translocation
CHROMOSOME RESEARCH
, cilt.13, ss.49-50, 2005 (SCI-Expanded)
Camptomelic dysplasia syndrome
Acta Orthopaedica Et Traumatologica Turcica
, cilt.31, sa.1, ss.53-55, 2004 (SCI-Expanded)
Congenital anomalies of the kidneys in family members
ANNALS OF SAUDI MEDICINE
, cilt.23, sa.6, ss.425, 2003 (SCI-Expanded)
Homozygous null mutations of ROR2 tyrosine kinase cause the autosomal recessive form of Robinow syndrome.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.67, sa.4, ss.40, 2000 (SCI-Expanded)
Cloning and genomic structure of OTX2, a candidate gene for Congenital Microphthalmia.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.65, sa.4, 1999 (SCI-Expanded)
Mapping of autosomal recessive congenital microphthalmia and exclusion of linkage to 14q32
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
, cilt.40, sa.4, 1999 (SCI-Expanded)
Chromosome 2 fragility in 48,XXYY syndrome: a case report
CYTOGENETICS AND CELL GENETICS
, cilt.85, ss.159, 1999 (SCI-Expanded)
Mesoaxial complete syndactyly and synostosis with hypoplastic thumbs: Homozygous feature of syndactyly type I?.
American Journal Of Human Genetics
, cilt.61, sa.4, ss.109, 1997 (SCI-Expanded)
Fanconi pancytopenia type I syndrome
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.
CYTOGENETICS AND CELL GENETICS
, cilt.77, 1997 (SCI-Expanded)
PGM1 Polymorphism and Rho (D) Incidence in the Turkish Population
Turkish Journal Of Medical Sciences
, cilt.26, ss.383-387, 1996 (SCI-Expanded)
Oral-Facial-Digital Syndrome-Type I Associated with Polycystic Kidney Disease: A Case Report.
Turkish Journal of Medical Sciences
, cilt.16, ss.573-576, 1992 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
Two new patients diagnosed with Trichothiodystrophy type 1
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
Two patients with Epidemolisis Bullosa
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
A report of two siblings diagnosed with Cutis Laxa
Gazi Medical Journal
, cilt.31, sa.2, 2020 (ESCI)
Phenotypic contradictions: Dual effect.
Erciyes Medical Journal
, sa.41, ss.2-3, 2019 (Hakemli Dergi)
"Two siblings with a rare diagnosis, Raymond type X-linked syndromic mental retardation
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.
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
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
A new family with 3q27.3.3q29 interstitial deletion
Gazi Medical Journal
, cilt.30, sa.1, ss.32, 2019 (Scopus)
A new family with 3q27.3q29 İnterstitial Deletion
GAZI MEDICAL JOURNAL
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
ADNP Gene in the Etiology of Syndromic Autism: A case report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
The Pathogenic Role of Xp22.31 copy number variations and literarure review
Gazi medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
From Phenotype to Genotype
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
Deletion of the SOX3 Gene Causes Panhypopituitarism: A Case Report
Gazi Medical Journal
, cilt.30, sa.1, ss.1-101, 2019 (Scopus)
HAPLOINSUFFICIENCY OF ZNF462 GENE IN A PATIENT WITHINTERSTITIAL DELETION OF CHROMOSOME 9q
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
ERCIYES TIP DERGISI
, cilt.40, sa.2, ss.51, 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
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, ss.35-79, 2018 (Hakemli Dergi)
Lethal multiple pterygıum syndrome related with RYR1 gene mutation
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
Lethal Multıple Pterygıum Syndrome related wıth RYR1 gene gene mutatıon
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
A new method for analysıs of exome sequencıng data dependıng on varıant prıorıtızatıon
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, 2018 (Scopus)
Contrubutıon of the clınıcal and laboratory fındıngs for correct dıagnosıs
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.2, ss.57-112, 2018 (Scopus)
Kılavuzlar Eşliğinde Fetal Konjenital Anomaliler ve İlişkili Olduğu Sendromlar
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
ERCIYES MEDICAL JOURNAL
, cilt.40, sa.1, ss.54-56, 2018 (Hakemli Dergi)
The fifth family with MACS syndrome
Erciyes Medical Journal
, cilt.38, sa.1, ss.17, 2016 (Hakemli Dergi)
Holoprocencephaly noted in a case of mosaic trisomy 9 syndrome
Erciyes Medical Journal
, cilt.38, sa.1, ss.46, 2016 (Hakemli Dergi)
Mutation spectrum of the VHL gene mutations
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
ERCIYES MEDICAL JOURNAL
, cilt.38, sa.1, ss.35, 2016 (Hakemli Dergi)
Clinical findings in patients with9q deletion encompasing the 9q21 11q21 32 region
ERCIYES MEDICAL JOURNAL
, cilt.38, sa.1, ss.14, 2016 (Hakemli Dergi)
A new case with mosaic trisomy 19q
Erciyes Medical Journal
, cilt.38, sa.1, ss.32, 2016 (Hakemli Dergi)
A case with 22q11 deletion syndrome and anal anomalies
Erciyes Medical Journal
, cilt.38, sa.1, ss.24, 2016 (Hakemli Dergi)
A female with Smith Fineman Myers syndrome
Erciyes Medical Journal
, cilt.38, sa.1, ss.27, 2016 (Hakemli Dergi)
Investigation of CYP2D6 gene polymorphisms in Turkish Population
Psychopharmacology Bulletin
, cilt.46, sa.1, ss.67-72, 2016 (Scopus)
Poland Syndrome: A Case Report
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
Türkiye Klinikleri J Pediatr
, cilt.19, sa.2, ss.171-175, 2010 (Hakemli Dergi)
A Turkish case with craniofrontonasal syndrome
Erciyes Tıp dergisi (Erciyes Medical Journal)
, cilt.31, sa.4, ss.293-343, 2009 (Hakemli Dergi)
Trismus-pseudocamptodactyly sendrom (Hecht-Beals sendromu): Olgu raporu
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
DEÜ Tıp Fakültesi Dergisi
, cilt.21, sa.3, ss.207-214, 2007 (Hakemli Dergi)
Farmakogenetik Derleme
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
Adli Tıp Dergisi
, cilt.16, sa.2, ss.82-87, 2002 (Hakemli Dergi)
Türk populasyonunda ADA enziminin polimorfizmi ve allel sıklığı
Türkiye Ekopatoloji Dergisi
, cilt.7, sa.3, ss.71-74, 2001 (Hakemli Dergi)
Surgical risk factors in the Larsen s syndrome
Acta Orthopaedica Belgica
, sa.66, ss.495-498, 2000 (Scopus)
Psödovaginal Perineoscrotal Hipospadiaslı Bir Olgu.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi
, cilt.21, sa.2, ss.152-154, 1999 (Hakemli Dergi)
45 X 46 XY Karyotipli Karma Gonadal Disgenezisli Bir Olgu
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.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi
, cilt.20, sa.3, ss.241-245, 1998 (Hakemli Dergi)
Oromandibular Limb Hipogenesis Spectrum lu Bir Olgu
ERCIYES MEDICAL JOURNAL
, cilt.19, sa.4, ss.230-232, 1997 (ESCI)
Kamptomelik Displazi Sendromu
Acta Ortophedica Traumatica Turcica
, sa.31, ss.53-55, 1997 (Hakemli Dergi)
Rokitansky-Kuster-Hauser Sendromu (Bir Olgu Sunumu
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
ERCIYES MEDICAL JOURNAL
, cilt.19, sa.4, ss.226-229, 1997 (ESCI)
Bardet-Biedl Sendromu
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
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi
, cilt.17, sa.3, ss.157-161, 1995 (Hakemli Dergi)
Fryns Sendromu Olgu Sunumu
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.
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi
, cilt.17, sa.3, ss.157-161, 1995 (Hakemli Dergi)
Unilateral Over Yokluğu ile Murks Birlikteliği: Olgu Sunumu
Jinekoloji ve Obstetrik Dergisi
, cilt.9, ss.187-189, 1995 (Hakemli Dergi)
Larsen s Syndrome with Mixed Type Hearing Loos
Acta Orthopaedica Belgica
, cilt.60, sa.3, ss.328-331, 1994 (Scopus)
Multipl Ekzostoz Sendromu (Dört Olgu Nedeniyle).
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi
, cilt.16, sa.1, ss.70-73, 1994 (Hakemli Dergi)
Poland Sendromu (Bir olgu nedeniyle).
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi
, cilt.15, sa.4, ss.276-279, 1993 (Hakemli Dergi)
Rubinstein-Taybi Sendromu (Bir Olgu Nedeniyle)
Cumhuriyet Üniversitesi Tıp Fakültesi Dergisi
, cilt.15, sa.1, ss.64-68, 1993 (Hakemli Dergi)
Progeria Sendromu ( Bir Olgu Nedeniyle).
Ege Tıp Dergisi
, cilt.31, sa.3, ss.515-517, 1992 (Hakemli Dergi)
Progeria Sendromu ( Bir Olgu Nedeniyle)
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
15. Ulusal Tıbbi Genetik Kongresi, Muğla, Türkiye, 9 - 13 Kasım 2022, ss.1
Kriptooftalminin Eşlik Etmediği Fraser Sendromlu Olguda Yeni Bir Varyant
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
7. Uluslararası Erciyes Tıp Tıbbi Genetik Kongresi, Kayseri, Türkiye, 26 - 28 Mayıs 2022, ss.134
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
A new approach (EDIZ) for Big Data Variant Prioritization
13th balkan Congress of Human Genetics, Edirne, Türkiye, 17 - 20 Nisan 2019
KONJENİTAL JENERALİZE LİPODİSTROFİ TİP 4 - CAVIN1 GENİNDEYENİ MUTASYON
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
13. ulusal tıbbi genetik kongresi, Türkiye, 7 - 10 Kasım 2018
Copy number variation analysis in autism spectrum disorders
european human genetics conference, 16 - 20 Haziran 2018
A mosaic double aneuploidy: mos 45,X/47,XX,18 with mild phenotype
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
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
ESHG 2018, 16 - 19 Haziran 2018
IS HYPOPIGMENTED SKIN PATCH A NEW SYMPTOM OFROBERTS / SC PHOCOMELIA SYNDROME?
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 ?
European Human Genetics Conference, Cophenhagen, Denmark, 27 - 30 Mayıs 2017
P03.02B/B - Molecular karyotyping in ten patients with isolated anorectal malformation
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
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
European Human Genetics Conference Cophenagen, Denmark, 27 - 30 Mayıs 2017
Molecular Cytogenetic Characterization of A Small Supernumerary Marker Chromosome Derived From Chromosome
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
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
10 TH BİENNİAL CHİLDHOOD SYMPOSİUM, 25 - 26 Nisan 2016
Clinical Findings in Patients with 9q Deletion Encompassing the 9q21.11q21.32 Region.
Erciyes Medical Journal 2016; 38 (3):14., 15 Mart 2016
Gelişme geriliği ve epilepsisi olan birolguda array CGH sonucu
3. Nörometabolik dismorfoloji sempozyumu, çeşme, Türkiye, 10 - 12 Mart 2016
Nadir Hastalıklara Yaklaşım
T.C. Sağlık Bakanlığı Ankara Numune Hastanesi “Nadir Hastalıklar Sempozyumu”, Ankara, Türkiye, 29 Şubat 2016
T102C and 1438 G A Polymorphisms of The Serotonin 2A Receptor Gene in Etiology and Course of Attention Deficit Hyperactivity Disorder
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
6th Istanbul Dysmorphology Days, 03 Nisan 2013
Erken başlangıçlı Cockayne sendromu
2. Nörometabolik Dismorfoloji Sempozyumu, 08 Mart 2013
Nance Horan Sendromlu bir Türk ailede yeni bir mutasyon
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.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012
9q subtelomerik delesyonlu bir olgu: Ek bulguları ile
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012
Chromosomal Array AnalysisReveals Partial 11q Duplication and Partial 12p Deletion in A Mildly Affected Case
10. Ulusal tıbbiGenetik Kongresi, Bursa, 2012., Bursa, Türkiye, 18 - 22 Aralık 2012
Kromozomal yeniden düzenlenmelerde moleküler karyotipleme ile genotip fenotip ilişkisinin belirlenmesi
11. Ulusal Tıbbi genetil Kongresi, İstanbul, Türkiye, 24 - 27 Eylül 2014
Oküloektodermal sendromlu bir olgu
11. Ulusal Tıbbi genetik Kongresi, İstanbul, İstanbul, Türkiye, 24 Eylül 2014 - 27 Eylül 2012
Linkage analysis and a novel COL4A5 mutation in a large Turkish family with Alport syndrome.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, Clinical Genetics, 01 Ekim 2010, cilt.78, ss.15
De Novo Inv Dup Del (8p) Olan Dismorfik Bir Vakanın Sunumu.
VIII. Ulusal Tıbbi Genetik Kongresi, 06 Mayıs 2008
Kitap & Kitap Bölümleri
Dismorfik hastaya yaklaşım
Tıbbi Genetik ve Klinik Uygulamaları, Munis Dündar, Editör, MGrup Matbacılık Kayseri, Kayseri, ss.649-683, 2016