Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2019) Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American journal of human genetics. pp. 1048-1056. ISSN 1537-6605
(2017) B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. Genome medicine. p. 118. ISSN 1756-994X