Revisiting the complex architecture of ALS in Turkey: Expanding genotypes, shared phenotypes, molecular networks, and a public variant database
Ceren Tunca, Tuncay Şeker, Fulya Akçimen, Cemre Coşkun, Robin Palvadeau et al.
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SEQ Platform’s Automated Variant Classification Tool: Highlighting VUS+ and VUS++ Classification
Discover SEQ’s Automated Variant Classification Tool, which incorporates ACMG’s Standards and Guidelines, and learn how the additional VUS+ and VUS++ classifications can improve variant interpretation and prioritization.
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Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
Aslihan Sanri, Hakan Gurkan and Selma Demir
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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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