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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.

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Possible role of SCN4A skeletal muscle mutation in apnea during seizure

Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç et al.

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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.

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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.

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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

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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

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A biallelic mutation links MYORG to autosomal-recessive primary familial brain calcification 

Yalda Forouhideh, Kathrin Müller, Wolfgang Ruf, Muhannad Assi, Tuncay Şeker et al.

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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

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