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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 9, 2021
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-SaguenayBedia Samanci, Ebru Erzurumluoglu Gokalp, Basar Bilgic, et al.
International Journal of Ophthalmology|June 21, 2021
Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, TurkeyNadir Unlu, Ebru Erzurumluoglu Gokalp, Serap Arslan, et al.
Cancer Genetics|March 27, 2021
A new four-way complex translocation variant involving the t(8;5;21;4)(q21;q13,q22,q31) and the relocalization of AML1/ETO fusion geneSevgi Isik, Hava Uskudar Teke, Gulcin Gunden, et al.
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.
American Journal of Medical Genetics. Part A|January 21, 2020
A Turkish patient with novel AHCY variants and presumed diagnosis of S-adenosylhomocysteine hydrolase deficiencyHasan Bas, Oguz Cilingir, Neslihan Tekin, et al.
Journal of Korean Neurosurgical Society|February 3, 2025
The Role of miRNA Expression Profiles in Different Biofluids İn Aneurysm RuptureSara Khadem Ansari, Ebru Erzurumluoglu Gokalp, Emre Ozkara, 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.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|April 15, 2021
A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's diseaseGamze Guven, Bedia Samanci, Cagri Gulec, et al.
Scientific Reports|May 14, 2025
Investigating the dual role of mitochondrial and nuclear genome variants in pediatric cardiomyopathiesM Arda Temena, Ebru Erzurumluoglu Gokalp, Ezgi Susam, 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.
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