Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

CLINICAL SPECTRUM OF CUBULIN MUTATIONS

PEDIATRIC NEPHROLOGY, vol.37, no.11, pp.2845-2846, 2022 (Peer-Reviewed Journal) identifier

Two new cases diagnosed with Hermansky-Pudlak Syndrome

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.30, no.SUPPL 1, pp.223, 2022 (Peer-Reviewed Journal) identifier

A rare cause of hypercalcemia: Congenital Lactase Deficiency

HORMONE RESEARCH IN PAEDIATRICS, vol.94, no.SUPPL 1, pp.75, 2021 (Peer-Reviewed Journal) identifier

Expanding of mutation spectrum in Muscular Dystrophies: A Turkish Cohort

EUROPEAN JOURNAL OF HUMAN GENETICS, vol.28, no.SUPPL 1, pp.435-436, 2020 (Peer-Reviewed Journal) identifier

A rare cause of hypophosphatemia: Raine Syndrome

HORMONE RESEARCH IN PAEDIATRICS, vol.91, pp.384, 2019 (Peer-Reviewed Journal) identifier

Articles Published in Other Journals

Refereed Congress / Symposium Publications in Proceedings

Schaaf Yang sendromu

4. Ulusal Çocuk Genetik kongresi, İstanbul, Turkey, 25 - 27 September 2019

A rare cause of hypophosphatemia: Raine Syndrome

European Society for Paediatric Endocrinology (ESPE)58th Annual Meeting, Vienna, VİYANA, Austria, 19 - 21 September 2019, vol.91

Von Hippel Lindau Patients

13. BALKAN GENETİK KONGRESİ, Edirne, Turkey, 16 - 20 April 2019

PEDİATRİK AKUT LENFOBLASTİK LÖSEMİDE TEŞHİSSEL TESTLERİN GEÇERLİLİĞİ

13. Uluslararası Katılımlı Ulusal Tıbbi Genetik Kongresi, Antalya, Turkey, 7 - 11 November 2018

REVERSE GENETİK İLE TANI KOYULAN NADİR BİR SPASTİK PARAPLEJİ AİLESİ

13.ULUSLARARASI KATILIMLI ULUSAL TIBBİ GENETİK ANABİLİM DALI, Turkey, 7 - 11 November 2018

FARKLI GENLER,FARKLI MUTASYONLAR,FENOTİPTE FARKLILIK YARATIYOR MU ?: ALPORT SENDROMU

Uluslararası Katılımlı 13. Ulusal Tıbbi Genetik Kongresi, Turkey, 7 - 11 November 2018