Publications & Works

Published journal articles indexed by SCI, SSCI, and AHCI

Frequency of HLA Class I and Class II Alleles in Patients with CVID from Turkey

IMMUNOLOGICAL INVESTIGATIONS, vol.50, no.4, pp.363-371, 2021 (Journal Indexed in SCI) identifier identifier identifier

Atypical Presentation of Sengers Syndrome: A Novel Mutation Revealed with Postmortem Genetic Testing.

Fetal and pediatric pathology, vol.39, no.2, pp.163-171, 2020 (Journal Indexed in SCI Expanded) identifier identifier identifier

Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus

JOURNAL OF RHEUMATOLOGY, vol.45, no.12, pp.1671-1679, 2018 (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

Articles Published in Other 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

Severe Motor Mental Retardation with Microcepahlyand Hypomyelination due to PYCR2 Gene variant in aLarge Family

Annual Symposium of the Society for the Study of Inborn Errors of Metabolism 2019 (SSIEM-2019), Rotterdam, Netherlands, 3 - 06 September 2019, vol.42, pp.1-479 identifier identifier

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

A novel mutation in the HTRA1 gene in a Turkish family with CARASIL

1st Congress of the European-Academy-of-Neurology, Berlin, Germany, 20 - 23 June 2015, vol.22, pp.258 identifier