Cerebellar cognitive-affective syndrome preceding ataxia associated with complex extrapyramidal features in a Turkish SCA48 family
R. Palvadeau, Z. E. Kaya-Güleç, G. Şimşir, A. Vural, Ö. Öztop-Çakmak et al.
Details
Possible role of SCN4A skeletal muscle mutation in apnea during seizure
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç et al.
Details
Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes
Berk Ozyilmaz, Ozgur Kirbiyik, Altug Koc, Taha R. Ozdemir, Ozge Kaya Ozer et al.
Details
The Incidence of Cystic Fibrosis in the Central Region of Anatolia in Turkey Between 2015 and 2016
Melih Hangül, Sevgi Pekcan, Mehmet Köse, Deniz Acıcan, Tuba Esra Şahlar et al.
Details
A case of spastic paraplegia-15 with a novel pathogenic variant in ZFYVE26 gene
Taha Reşid Özdemir, Pınar Gençpınar, Pınar Arıcan, Özgür Öztekin, Nihal Olgaç Dündar, and Berk Özyılmaz
Details
Genetic and Clinical Characteristics of Patients with Vitamin D Dependent Rickets Type 1A
Fatma Dursun, Gamze Özgürhan, Heves Kırmızıbekmez, Ece Keskin, and Bülent Hacıhamdioğlu
Details
A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification
Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, Muhannad Assi, Tuncay Şeker et al.
Details
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
Details
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
Details