SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
Microdeletion and mutation analysis of the SHOX gene in patients with idiopathic short stature with FISH and sequencing
TURKISH JOURNAL OF MEDICAL SCIENCES
, cilt.48, ss.386-390, 2018 (SCI-Expanded)
The evaluation of long-term effects of ionizing radiation through measurement of current sister chromatid exchange (SCE) rates in radiology technologists, compared with previous SCE values
MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS
, cilt.757, sa.1, ss.28-30, 2013 (SCI-Expanded)
Harlequin Syndrome With Hemifacial Atrophy: A Case Study
TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
, cilt.46, sa.1, ss.50-52, 2012 (SCI-Expanded)
Cochlear involvement in Familial Mediterranean Fever: A new feature of an old disease
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY
, cilt.76, sa.2, ss.244-247, 2012 (SCI-Expanded)
INTERLEUKIN-10 GENE PROMOTER POLYMORPHISM IN PATIENTS WITH SCHIZOPHRENIA IN A REGION OF EAST TURKEY
IUBMB LIFE
, cilt.61, sa.3, ss.383-384, 2009 (SCI-Expanded)
ROUTINE RESULTS OF FACTOR V LEIDEN, FACTOR V H1299R, FACTOR II PROTHROMBIN (G20210A), MTHFR A1298C AND MTHFR C677T POLYMORPHISMS WITH RT-PCR
IUBMB LIFE
, cilt.61, sa.3, ss.374, 2009 (SCI-Expanded)
MEFV GENE ANALYSIS RESULTS OF PATIENTS WITH PROBABLE FAMILIAL MEDITERRANEAN FEVER
IUBMB LIFE
, cilt.61, sa.3, ss.374, 2009 (SCI-Expanded)
SEPTO-OPTIC DYSPLASIA (MORSIER'S SYNDROME) AND DEVELOPMENTAL GENETICS: A CASE REPORT
IUBMB LIFE
, cilt.61, sa.3, ss.375-376, 2009 (SCI-Expanded)
THE VALUE OF INTERLEUKIN-12B (P40) GENE PROMOTER POLYMORPHISM IN PATIENTS WITH SCHIZOPHRENIA IN A REGION OF EAST TURKEY
IUBMB LIFE
, cilt.61, sa.3, ss.383, 2009 (SCI-Expanded)
MOLECULAR AND CLINICAL FINDINGS IN AN EXTENSIVE FAMILY WITH DUCHENNE/BECKER MUSCULAR DYSTROPHY
IUBMB LIFE
, cilt.61, sa.3, ss.376, 2009 (SCI-Expanded)
MOLECULAR AND CLINICAL WORK-UP IN AN EXTENSIVE FAMILY WITH BECKER MUSCULAR DYSTROPHY
IUBMB LIFE
, cilt.61, sa.3, ss.375, 2009 (SCI-Expanded)
Effects of long-term inhaled steroid use on bone mineral density in asthma patients
JOURNAL OF INVESTIGATIONAL ALLERGOLOGY & CLINICAL IMMUNOLOGY
, cilt.11, sa.4, ss.300-302, 2001 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
Prenatal and Postnatal Clinical Spectrum of a Mosaic Small Supernumerary Marker Chromosome 22
International Journal of Pediatrics and Child Health
, cilt.7, ss.36-39, 2019 (Hakemli Dergi)
Prenatal Sitogenetik Analizde Gerçek ve Yalancı Mozaisizmler
Turkiye Klinikleri J Med Genet-Special Topics
, cilt.3, sa.1, ss.48-52, 2018 (Hakemli Dergi)
Prenatal diagnosis of a complex chromosomal rearrangement by the usage of conventional and array karyotyping
ERCIYES MEDICAL JOURNAL
, cilt.39, ss.70, 2017 (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)
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)
Farklı bulguları olan spina bifida ve renal anomalili iki olgu sunumu
J Kartal TR
, cilt.26, sa.3, ss.272-276, 2015 (Hakemli Dergi)
Batı Karadeniz Bölgesindeki Pulmoner Tromboemboli Vakalarında Faktör V Faktör II ve MTHFR Mutasyonlarının Sıklığı
Turkiye Klinikleri Journal of Cardiovascular Sciences
, cilt.22, sa.2, ss.185-192, 2010 (Hakemli Dergi)
MikroRNA lar ve İnsan Hastalıkları
Abant İzzet Baysal Üniversitesi İzzet Baysal Tıp Fakültesi Dergisi
, cilt.3, sa.1, ss.24-28, 2008 (Hakemli Dergi)
Kistik fibrozis ve moleküler genetik yaklaşımlar
TURK TORAKS DERGISI
, cilt.4, ss.198-204, 2003 (Hakemli Dergi)
Plörezili Hastalardaki Plevral Efüzyonların Transüda Eksüda Ayırımında Malondialdehidin Tanı Değeri
Turkiye Klinikleri J Med Res
, cilt.20, sa.1, ss.37-41, 2002 (Hakemli Dergi)
Prevalence of Asthma and Asthma Like and Allergic Symptoms in the Urban Adult Population of Elazığ
Turk J Med Sci
, cilt.32, ss.243-249, 2002 (Hakemli Dergi)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
SMN1 gen delesyonu dışlanmış Spinal Musküler Atrofi ön tanılı çocuklarda etiyolojinin tüm ekzom dizi analizi verilerine dayanarak retrospektif olarak araştırılması.
14. Ulusal Tıbbi Genetik Kongresi“Uluslararası Katılımlı”, Türkiye, 20 - 22 Kasım 2020
Relationship Between Primary Nodal Generalized Osteoartrhitis with Tissue Antigens HLA-A and HLA-B in Western Blacksea Region.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Retrospective analysis of single nucleotide polymorphisms (SNPs) on TLR-4, PTX-3, Dectin-1 genes and the association with the development of invasive fungal infections among hematopoietic stem cell transplant recipients with oncohematological conditions
9th Trends in Medical Mycology, 11 - 14 Ekim 2019
Prenatal Dönemde Saptanan 48,XXYY Sendromlu Olgu
XIII. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Türkiye, 7 - 11 Kasım 2018
Prenatal diagnosis of a complex chromosomal rearrangement by the usage of conventional and array karyotyping.
Erciyes Tıp Genetik Günleri 2017, Kayseri, Türkiye, 11 - 13 Mayıs 2017, ss.1
The Relation between Micropenis in Childhood and CAG with GGN Repeat Polymorphisms in the Androgen Receptor Gene
XII. Ulusal Tıbbi Genetik Kongresi, İzmir, Türkiye, 5 - 09 Ekim 2016
Disentrik ve Neosentrik Kromozomal Yeniden Düzenlenimle Sonuçlanan 4 9 Resiprokal Translokasyonlu İnfertil Olgu
XII. Ulusal Tıbbi Genetik Kongresi, Türkiye, 5 - 09 Ekim 2016
A Case with Cri du Chat Syndrome: Clinical and Cytogenetic Variability
Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik Uygulamaları Kongresi, 11 - 15 Mayıs 2016, cilt.38, ss.35
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
An Interchange Trisomy 21 As A Rare Form of Down Syndrome
Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik Uygulamaları Kongresi, 11 Mayıs 2016, cilt.38, ss.35
Confirmation of the Prenatal Mosaic Trisomy 2 via Fetal USG and Cytogenetic Analyses.
Gevher Nesibe Tıp Günleri 2016 ve Tıbbi Genetik ve Klinik Uygulamaları Kongresi, Kayseri, Türkiye, 11 - 13 Mayıs 2016, cilt.38, ss.36
Clinical Findings in Patients with 9q Deletion Encompassing the 9q21.11q21.32 Region.
Erciyes Medical Journal 2016; 38 (3):14., 15 Mart 2016
Prenatal dönemde tanısı konulan Trizomi 18 ve Klinefelter Sendromunun birlikte olduğu çift anöploidi 48 XXY 18 olgusu
Türkiye Maternal Fetal Tıp ve Perinatoloji Derneği Perinatal Medicine 2015 Kongresi, İstanbul, Türkiye, 23 - 25 Nisan 2015
Ailesel Akdeniz Ateşi Tedavisinde CYP3A4 ve MDR1 Gen Polimorfizmlerinin Kolşisin Farmakogenetiği Üzerine Etkisi
Erişkin Yaşta Görülen Genetik Hastalıklar Sempozyumu, 06 Aralık 2013
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
İyonize radyasyonun radyoloji teknisyenleri üzerindeki uzun dönem etkilerinin SCE analizi ile değerlendirilmesi: Önceki ve mevcut SCE değerlerinin karşılaştırılması.
10. Ulusal Tıbbi Genetik Kongresi, 19 Aralık 2012
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
The evaluation of long term effects of ionizingradiation through measurement of current sister chromatid exchange SCE rates in radiologytechnologists compared with previous SCE values
Ulusal tıbbi Genetik Kongresi, Bursa, 2012., Bursa, Türkiye, 18 - 22 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
Interaction of serotonin transporter polymorphism with stressful life events and childhood trauma A replication study from Turkey
World Psychiatric Association Thematic Conference on Intersetional Collaboration:”The multidisplinary facets o fpsychiatry, 29 Kasım - 02 Aralık 2012
Herediter Trombofilik Risk Faktörleri Taşıyan ve Taşımayan Pulmoner Tromboembolili Hastaların Klinik, Radyolojik ve Diğer Parametrelerin Karşılaştırılması.
TÜSAD 33. Ulusal Kongresi-Solunum 2011, 13 Nisan 2011
Complex Hemihyperplasia with Associated Cutis Marmorata: A case study.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Adams-Olliver syndrome: A case with unilateral porencephaly and dilated cardiomyopathy with paroxysmal AV block.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Increased homosistein levels, folat and B12 deficiency or urinary excretion of methylmalonic acid might it be related with methylenetetrahydrofolate reductase polymorphisms.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Optic disc drusen and thrombophilia.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Split Hand/Foot Malformation Associated with Sensorineural Hearing Loss: A case study.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Microsatellite Instability Analysis in Nontumor Colon Tissue and Polyp.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010, cilt.78, ss.59
The Frequency of Factor V, Factor II and MTHFR Mutations in Pulmonary Thromboembolism Cases in the Western Black Sea Region.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Poland syndrome, might it be a sequence of intrauterine thrombosis?: A case with methylenetetrahydrofolate reductase common mutations.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
A Turkish Family with Generalized Woolly Hair with Hypotrichosis.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Oculo-Auriculo-Vertebral Spectrum (Goldenhar Syndrome).
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Frequency of genetic mutations associated with familial thrombophily history.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
Harlequin syndrome wity hemifacial atrophy: A case study.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
A Case of Bartter Syndrome.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
The Association of Meningomyelocele, Renal Agenesia, Anal Atresia and Postaxial Polydactyly: A Rare Case Report.
9th National Medical Genetics Congress of Turkish Medical Genetics Society with International Participation, 01 Ekim 2010
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
Goldenhar Sendromu ve Subklinik Hipotiroidi Birlikteliği.
6. Uludağ Pediatri Kış Kongresi, 07 Mart 2010
MEFV Gen Mutasyonlarının Aynı Ailedeki Farklı Fenotipik Etkileri.
XI. Ulusal Tıbbi Biyoloji ve Genetik Kongresi, 28 Ekim 2009
Erken Başlangıçlı Leber’in Herediter Optik Nöropatisi: Mitokondrial DNA’nın Kalıtım Şeklinin Etkileri.
8. Ulusal Sinirbilimleri Kongresi, 18 Nisan 2009
Ectrodactyly-Ectodermal Dysplasia- Clefting (EEC) Sendromu: Değişken Fenotipik Özellikler Barındıran Bir Aile.
VIII. Ulusal Tıbbi Genetik Kongresi, 06 Mayıs 2008
Septo-optik Displazi ve Gelişimsel Genetik: Bir Olgu Sunumu İle.
VIII. Ulusal Tıbbi Genetik Kongresi, 06 Mayıs 2008
Klinik Bulguları ile Alstrom Sendromlu Bir Vaka.
VIII. Ulusal Tıbbi Genetik Kongresi, 06 Mayıs 2008
De Novo Inv Dup Del (8p) Olan Dismorfik Bir Vakanın Sunumu.
VIII. Ulusal Tıbbi Genetik Kongresi, 06 Mayıs 2008
Wilson Hastalığı: Olgu Sunumu.
VII. Ulusal Prenatal Tanı ve Tıbbi Genetik Kongresi, 17 Mayıs 2006
Kitap & Kitap Bölümleri
Pontoserebellar Açı Tümörlerinde Genetik Etyoloji
Pontoserebellar Açı Tümörlerinde Tedavi Seçimi ve Cerrahi Yaklaşımlar, Kaymaz AM, Editör, Digital Akademi, Ankara, ss.20-26, 2018