Publications & Works

Articles Published in Journals That Entered SCI, SSCI and AHCI Indexes

SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype

AMERICAN JOURNAL OF HUMAN GENETICS, vol.108, no.11, pp.2112-2129, 2021 (Journal Indexed in SCI) identifier identifier identifier

A rare cause of syndromic short stature: 3M syndrome in three families

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020 (Journal Indexed in SCI) identifier identifier identifier

Peters Plus syndrome: a recognizable clinical entity

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.1, pp.136-140, 2020 (Journal Indexed in SCI) 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, vol.221, pp.76-80, 2018 (Journal Indexed in SCI Expanded) identifier identifier identifier

Anauxetic dysplasia: A rare clinical entity

Turkish Journal of Pediatrics, vol.60, no.1, pp.89-93, 2018 (Journal Indexed in SCI) identifier identifier identifier

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

Fetal and Pediatric Pathology, vol.36, no.6, pp.445-451, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

HERC1 mutations in idiopathic intellectual disability

European Journal of Medical Genetics, vol.60, no.5, pp.279-283, 2017 (Journal Indexed in SCI Expanded) identifier identifier identifier

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

New England Journal of Medicine, vol.374, no.26, pp.2553-2562, 2016 (Journal Indexed in SCI Expanded) identifier identifier identifier

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

American Journal of Medical Genetics, Part A, vol.167, no.9, pp.2065-2074, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

Further delineation of the KAT6B molecular and phenotypic spectrum

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.23, no.9, pp.1165-1170, 2015 (Journal Indexed in SCI) identifier identifier identifier

Etiological yield of SNP microarrays in idiopathic intellectual disability

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.18, no.3, pp.327-337, 2014 (Journal Indexed in SCI) Creative Commons License identifier identifier identifier

Celiac disease in Williams-Beuren syndrome

TURKISH JOURNAL OF PEDIATRICS, vol.56, no.2, pp.154-159, 2014 (Journal Indexed in SCI) identifier identifier identifier

TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, vol.164, no.2, pp.291-304, 2014 (Journal Indexed in SCI) identifier identifier identifier

Barraquer-Simons syndrome: A rare clinical entity

American Journal of Medical Genetics, Part A, vol.164, no.7, pp.1756-1760, 2014 (Journal Indexed in SCI Expanded) identifier identifier identifier

IMPAD1 Mutations in Two Catel-Manzke Like Patients

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.9, pp.2183-2187, 2012 (Journal Indexed in SCI) identifier identifier identifier

A mutation screen in patients with Kabuki syndrome

HUMAN GENETICS, vol.130, no.6, pp.715-724, 2011 (Journal Indexed in SCI) identifier identifier identifier

A newborn with overlapping features of AEC and EEC syndromes

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, no.12, pp.3100-3103, 2011 (Journal Indexed in SCI) identifier identifier identifier

Articles Published in Other Journals

Achondroplasiaand Down SyndromeIn An Infant: A RareCo-Occurrence

Asia Pacific Journal of Pediatric and Child Health, 2020 (Refereed Journals of Other Institutions)

Akondroplazide baba yaşı: İleri baba yaşı kaçtır?

Çocuk Sağlığı ve Hastalıkları, vol.62, no.62, pp.7-9, 2019 (National Non-Refereed Journal) identifier

3M Sendromu

Çocuk Sağlığı ve Hastalıkları Dergisi, 2017 (Other Refereed National Journals)

İskelet Dizplazilerine Yaklaşım

Türkiye Klinikleri Tıbbi Genetik Klinik Genetik Özel Sayısı, pp.69-81, 2016 (Other Refereed National Journals)

İskelet Displazilerinde Genel Değerlendirme

TOTBID Dergisi, 2016 (Other Refereed National Journals)

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

JOURNAL OF PEDIATRIC INFECTION, vol.8, no.2, pp.64-70, 2014 (Journal Indexed in ESCI) identifier identifier

Refereed Congress / Symposium Publications in Proceedings

The Skeletal Dysplasia Registry: Hacettepe Experience

The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019

İskelet Sisteminin Genetik Hastalıklarinda Yeni Yöntemlerle Tanı

XIII. Ulusal Tıbbi Genetik Kongresi, Turkey, 7 - 11 November 2018

Prenatal Tanı Testleri (Sitogenetik ve Moleküler Genetik) ve Genetik Danışma

Çocuk Genetik Hastalıkları Sempozyumu-VI Birinci Basamak Hekimler İçin, 19 Ekim 2018, Gaziantep., Turkey, 19 October 2018

A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome

57th Annual ESPE European Society for Paediatric Endocrinology, Atina, Greece, 27 - 29 September 2018, vol.90, pp.351-352

IGF1 Receptor Deletion is a Rare Cause of Prenatal Onset Short Stature.

International Congress of the Growth Hormone Research IGF Societies, Sep 14 - 17, 2018, Seattle, Washington, United States of America., 14 - 17 September 2018

Gelişme Geriliği Olan Çocuklarda Ne Zaman Genetik Hastalıklar Düşünülmeli?

1. Uluslararası Erken Müdahale ve Rehabilitasyon (EMR 2018) Kongresi, 30 Mart 2018-01 Nisan 2018, Ankara., Turkey, 30 March - 01 April 2018

KID Sendromu: Nadir bir klinik antite

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Juvenil Paget Hastalığı

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Peters Plus Sendromu

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

6p25.3 delesyonu

3.Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Teebi hipertelorizm sendromu

3. Ulusal Çocuk Genetik Sempozyumu, Antalya, Turkey, 11 - 13 October 2017

Sox9 gene duplication-related 46, XX ovotesticular disorder of sex development

10th International Meeting of Pediatric Endocrinology, Washington, Kiribati, 14 - 17 September 2017, vol.88, pp.371

RASOPATİ RAP1 MEK ERK YOLAKLARI

3. NÖROMETABOLİK DİSMORFOLOJİ SEMPOZYUMU, Turkey, 10 - 12 March 2016

Clinical Approach to Hereditary Connective Tissue Disorders

3rd Italian-Turkish-Iranian Pediatric Congress, 04-08 November 2015, Belek, Antalya,Turkey., 4 - 08 November 2015

Nadir görülen bir iskelet displazisi Stüve Wiedemann sendromu

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Sempozyum Kitabı Sayfa 72., Turkey, 22 - 24 October 2015

3M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Hennekam sendromu Otozomal resesif geçişli bir konjenital lenfödem

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Bir vaka nedeniyle Goltz sendromu

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

WAGR Sendromu Aniriden daha fazlası

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Erişkin dönemde tanı alan Williams sendromu vakası

2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015

Keutel Syndrome A Rare Clinical Entity

International Skeletal Dysplasia Society 12th Biennial Meeting, July 29th-August 1, 2015-Istanbul, Turkey, Abstract Book p.109., İstanbul, Turkey, 29 July - 01 August 2015

Roberts SC Phocomelia Syndrome A Rare Clinical Entity

International Skeletal Dysplasia Society 12th Biennial Meeting, 29 July - 01 August 2015

Spotlight on the pathogenesis of Kabuki syndrome

ESHG 2015, 6-9 June 2015, Glasgow, Scotland, United Kingdom., 6 - 09 June 2015

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, United States Of America, 12 - 15 September 2014, vol.29 identifier

Books & Book Chapters

Kısım 10, Klinik Genetik ve Dismorfoloji, Bağ Dokusunun Genetik Hastalıkları

in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitabevleri, Ankara, pp.2047-2091, 2017

Kısım 10 Klinik Genetik ve Dismorfoloji, İskeletin Genetik Hastalıkları

in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitabevi, Ankara, pp.2024-2047, 2017

Kısım 22, Nefroloji ve Üroloji

in: Nelson Pediatrinin Temelleri (Çeviri), Yurdakök Murat, Editor, Güneş Tıp Kitabevleri, Ankara, 2017

İnsan Genetiği ve Dismorfoloji

in: Nelson Pediatrinin Temelleri 7. Baskı, Murat Yurdakök, Editor, Güneş Tıp Kitabevleri, Ankara, pp.146-163, 2017