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American Journal of Medical Genetics. Part A|September 25, 2021
NDE1-related disorders: A recurrent NDE1 pathogenic variant causing Lissencephaly 4 can also be associated with microhydranencephalyHasan Bas, Suzan Saylisoy, Oguz Cilingir, et al.
Cancer Genetics|July 5, 2021
A pediatric BAL case with double Ph chromosomes and trisomy 5Gulcin Gunden, Sevgi Isik, Canan Ozdemir, et al.
Neurobiology of Aging|January 28, 2019
The association between repeat number in C9orf72 and phenotypic variability in Turkish patients with frontotemporal lobar degenerationEbru Erzurumluoglu, Oguz Cilingir, Belgin Demet Ozbabalik Adapinar, et al.
Annals of Saudi Medicine|June 7, 2025
Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from TurkeySabri Aynaci, Sinem Kocagil, Esfun Tosumoglu, et al.
Biomedicines|June 26, 2026
MicroRNAs in Aneurysmal Subarachnoid Hemorrhage: A Stage-Specific Model Linking Rupture, Vasospasm, and OutcomeEmre Ozkara, Ebru Erzurumluoglu Gokalp, Ozlem Aykac, et al.
Neurogenetics|June 3, 2026
Adult-onset dystonia associated with CHD8 truncating variants: case series and targeted literature reviewOğuzhan Yılmaz, Uğur Olgun Çelik, Ebru Erzurumluoğlu Gökalp, et al.
Cytogenetic and Genome Research|December 16, 2021
An Anomaly with Potential as a New Prognostic Marker in CLL with del(13q): Gain of 16p13.3Sevgi Isik, Gulcin Gunden, Eren Gunduz, et al.
Genes|September 27, 2025
Cerebrospinal Fluid MicroRNAs as Early Biomarker Candidates for Predicting Vasospasm Following Aneurysmal Subarachnoid HemorrhageEmre Ozkara, Ozlem Aykac, Ebru Erzurumluoglu Gokalp, et al.
Clinical Genetics|July 23, 2025
Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 CasesZeynep Esener, Mehmet Akif Yücesoy, Alper Gezdirici, et al.
European Journal of Human Genetics : EJHG|July 4, 2025
A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasiaAbdullah Sezer, Sukru S Oner, Hanife Saat, et al.
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