Yayınlar & Eserler

SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler

Peters Plus syndrome: a recognizable clinical entity

TURKISH JOURNAL OF PEDIATRICS, cilt.62, ss.136-140, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry

European Journal of Obstetrics and Gynecology and Reproductive Biology, cilt.221, ss.76-80, 2018 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Anauxetic dysplasia: A rare clinical entity

Turkish Journal of Pediatrics, cilt.60, ss.89-93, 2018 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Clinical and molecular evaluation of 16 patients with rett syndrome

Turkish Journal of Pediatrics, cilt.60, ss.1-9, 2018 (SCI Expanded İndekslerine Giren Dergi) identifier identifier

Coexistence of Trisomy 13 and SRY (−) XX Ovotesticular Disorder of Sex Development

Fetal and Pediatric Pathology, cilt.36, ss.445-451, 2017 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

HERC1 mutations in idiopathic intellectual disability

European Journal of Medical Genetics, cilt.60, ss.279-283, 2017 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Cortical-bone fragility - Insights from sFRP4 deficiency in Pyle's disease

New England Journal of Medicine, cilt.374, ss.2553-2562, 2016 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Further delineation of the KAT6B molecular and phenotypic spectrum

EUROPEAN JOURNAL OF HUMAN GENETICS, cilt.23, ss.1165-1170, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Experience of a skeletal dysplasia registry in Turkey: A five-years retrospective analysis

American Journal of Medical Genetics, Part A, cilt.167, ss.2065-2074, 2015 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

Etiological yield of SNP microarrays in idiopathic intellectual disability

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.18, ss.327-337, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Celiac disease in Williams-Beuren syndrome

TURKISH JOURNAL OF PEDIATRICS, cilt.56, ss.154-159, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.164, ss.291-304, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Barraquer-Simons syndrome: A rare clinical entity

American Journal of Medical Genetics, Part A, cilt.164, ss.1756-1760, 2014 (SCI Expanded İndekslerine Giren Dergi) identifier identifier identifier

IMPAD1 Mutations in Two Catel-Manzke Like Patients

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.2183-2187, 2012 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A newborn with overlapping features of AEC and EEC syndromes

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ss.3100-3103, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

A mutation screen in patients with Kabuki syndrome

HUMAN GENETICS, cilt.130, ss.715-724, 2011 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Diğer Dergilerde Yayınlanan Makaleler

3M Sendromu

Çocuk Sağlığı ve Hastalıkları Dergisi, 2017 (Diğer Kurumların Hakemli Dergileri)

İskelet Dizplazilerine Yaklaşım

Türkiye Klinikleri Tıbbi Genetik Klinik Genetik Özel Sayısı, ss.69-81, 2016 (Diğer Kurumların Hakemli Dergileri)

İskelet Displazilerinde Genel Değerlendirme

TOTBID Dergisi, 2016 (Diğer Kurumların Hakemli Dergileri)

Clinical Evaluations of 49 Cases with Kawasaki Disease: A Retrospective Cohort Study

JOURNAL OF PEDIATRIC INFECTION, cilt.8, ss.64-70, 2014 (ESCI İndekslerine Giren Dergi) identifier identifier

Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar

KID Sendromu: Nadir bir klinik antite

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Türkiye, 11 - 13 Ekim 2017

Novel Mutations in the Osteoprotegerin Gene TNFRSF11B in Two Patients with Juvenile Paget's Disease.

Annual Meeting of the American-Society-for-Bone-and-Mineral-Research, Texas, Amerika Birleşik Devletleri, 12 - 15 Eylül 2014, cilt.29 identifier

Kitap & Kitap Bölümleri

Kısım 22, Nefroloji ve Üroloji

Nelson Pediatrinin Temelleri (Çeviri), Yurdakök Murat, Editör, Güneş Tıp Kitabevleri, Ankara, 2017