Publications & Works

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

Ophthalmo-acromelic syndrome in an infant

EUROPEAN JOURNAL OF MEDICAL GENETICS, vol.62, no.7, 2019 (Journal Indexed in SCI) 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

Mutations in ANKS6 Cause a Nephronophthisis-Like Phenotype with ESRD

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, vol.25, no.8, pp.1653-1661, 2014 (Journal Indexed in SCI) identifier identifier identifier

DGKE Variants Cause a Glomerular Microangiopathy That Mimics Membranoproliferative GN

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, vol.24, no.3, pp.377-384, 2013 (Journal Indexed in SCI) identifier identifier identifier

The effect of colchicine on pyrin and pyrin interacting proteins.

Journal of cellular biochemistry, vol.113, no.11, pp.3536-46, 2012 (Journal Indexed in SCI Expanded) Creative Commons License identifier identifier identifier

Articles Published in Other Journals

Neuronal Conversion of Dermal Fibroblasts as a Disease Model

Cumhuriyet Medical Journal, vol.40, no.4, pp.392-399, 2018 (Other Refereed National Journals)

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

Two siblings with primary ciliary dyskinesia and hepatic involvement

3rd BEAT-PCD Conference and 4th PCD Training School, Lisbon, Portugal, 6 - 09 February 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

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, Cyprus (Kktc), 29 - 30 June 2017

Mendel Hastalıklarında Tüm Ekzom Dizileme

XIV. ULUSAL TIBBİ BİYOLOJİ VE GENETİK KONGRESİ, Turkey, 27 - 30 October 2015