SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
A Rare Cause of Hyperinsulinemic Hypoglycemia: Costello Syndrome
HORMONE RESEARCH IN PAEDIATRICS
, cilt.90, ss.363, 2018 (SCI-Expanded)
Whole Exome Sequencing in Early Onset Systemic Lupus Erythematosus
ARTHRITIS & RHEUMATOLOGY
, cilt.68, 2016 (SCI-Expanded)
Mutations In Anks6 Cause A Nephronophthisis-like Phenotype With End Stage Renal Disease
PEDIATRIC NEPHROLOGY
, cilt.29, sa.9, ss.1820, 2014 (SCI-Expanded)
Diğer Dergilerde Yayınlanan Makaleler
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
Sendromik olmayan zihinsel yetersizlikte tüm ekzom dizilemenin tanısal verimi
TAŞKIRAN Z. E., KARAOSMANOĞLU B., KOŞUKCU C., ÜREL DEMİR G., akgün doğan ö., Kiper şimşek P. Ö., et al.
16. Tıbbi Biyoloji ve Genetik Kongresi, Türkiye, 25 - 27 Ekim 2019
The Skeletal Dysplasia Registry: Hacettepe Experience
The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norveç, 11 - 14 Eylül 2019
Clinical, demographic and nosologic characterization of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry.
European Human Genetics Conference, Milan, Italy, June 16-19, 2018., Milan, İtalya, 16 - 19 Haziran 2018
Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family
10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017