Investigation the Relationship of Autism Spectrum Disorder and FOXP2, GRIN2B, KATNAL2, GABRA4 Genes
Sinem Yalçıntepe, Işık Göker, Selma Demir, Emine İkbal Atlı, Engin Atlı et al.
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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.
Cardiofaciocutaneous Syndrome Phenotype in a Case with de novo KRAS Pathogenic Variant
Aslihan Sanri, Hakan Gurkan and Selma Demir
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.
Possible role of SCN4A skeletal muscle mutation in apnea during seizure
Dilşad Türkdoğan, Emma Matthews, Sunay Usluer, Aslı Gündoğdu, Kayıhan Uluç et al.
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.
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.
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