ORCID "0000-0002-7785-2995" Makale Koleksiyonu için listeleme
-
A genetic mimic of cerebral palsy: Homozygous NFU1 mutation with marked intrafamilial phenotypic variation
Aksu Uzunhan, Tuğçe; Çakar, Nafiye Emel; Seyhan, Serhat; Aydın, Kürşad (Elsevier, 2020)Background: Genetic defects in the NFU1, an iron-sulfur cluster scaffold protein coding gene, which is vital in the final stage of assembly for iron sulfur proteins, have been defined as multiple mitochondrial dysfunctions ... -
Molecular heterogeneity in cystic fibrosis
Ayyıldız Civan, Hasret; Seyhan, Serhat (Georg Thieme Verlag KG, 2020)We aimed to evaluate type, frequency, and variety of pathogenic variants according to clinical and demographic features of children diagnosed with cystic fibrosis (CF). Twenty-five CF patients were evaluated retrospectively. ... -
Optical coherence tomography and fundus autofluorescence imaging in an infant with RD3-related leber congenital amaurosis
Dikkaya, Funda; Seyhan, Serhat; Karaman Erdur, Sevil; Şentürk, Fevzi; Aras, Cengiz (Taylor and Francis Inc., 2020)Background: Leber congenital amaurosis (LCA) is both genetically and phenotypically heterogeneous group of retinal disorder. Mutations in retinal degeneration 3 (RD3) have been reported as an infrequent cause of LCA which ... -
Variant nonketotic hyperglycinemia caused by a novel pathogenic mutation in the glrx5 gene
Çakar, Nafiye Emel; Seyhan, Serhat (ASEAN Neurological Association, 2020)Nonketotic hyperglycinemia (NKH) is caused by defects in the glycine cleavage system. Hyperglycinemia without biallelic mutations in one of the 4 genes that encode the constituents of the glycine cleavage system is classified ...