Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
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Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
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Possible role of SCN4A skeletal muscle mutation in apnea during seizure
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Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes
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The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016
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A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene
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Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, and Bülent Hacıhamdioğlu
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification
Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, Muhannad Assi, Tuncay Şeker et al.
Targeted Next-Generation Sequencing of MLH1, MSH2, and MSH6 Genes in Patients with Endometrial Carcinoma under 50 Years of Age
Taha Reşid Özdemir, Murat Alan, Muzaffer Sancı, and Altuğ Koç
A Turkish Female Twin Sister Patient with Fibular Aplasia, Congenital Tibia Pseudoarthrosis, Oligosyndactyly, and Negative WNT7A Gene Mutation
Hale Önder Yılmaz, Duran Topak, Orkun Yılmaz, and Seda Çakmaklı