SCI, SSCI ve AHCI İndekslerine Giren Dergilerde Yayınlanan Makaleler
A Case of SHOX Deletion Due to Isodicentric Y Chromosome Anomaly with Multiple Endocrine Disorders
HORMONE RESEARCH IN PAEDIATRICS
, cilt.95, sa.SUPPL 2, ss.533-534, 2022 (SCI-Expanded)
Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway
HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM
, cilt.20, sa.3, ss.581-585, 2021 (SCI-Expanded)
Café noir spots: a feature of familial progressive hyper- and hypopigmentation.
Journal of the European Academy of Dermatology and Venereology : JEADV
, cilt.34, sa.2, 2020 (SCI-Expanded)
Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder
MOLECULAR CYTOGENETICS
, cilt.10, 2017 (SCI-Expanded)
Hakemli Kongre / Sempozyum Bildiri Kitaplarında Yer Alan Yayınlar
Expanding the clinical and mutational spectrum of Roberts syndrome with previously unreported endoctrine findings.
European Human Genetics Conference, 16 - 19 Haziran 2018
Partial Trisomy 18 From a marker chromosome to a rare chromosomal disorder
European Cytogenetics Conference, 1 - 04 Temmuz 2017
Hennekam sendromu Otozomal resesif geçişli bir konjenital lenfödem
2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Türkiye, 22 - 24 Ekim 2015
Roberts SC Phocomelia Syndrome A Rare Clinical Entity
International Skeletal Dysplasia Society 12th Biennial Meeting, 29 Temmuz - 01 Ağustos 2015