Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2021) Bi-allelic loss-of-function variants in <i>BCAS3</i> cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082. ISSN 0002-9297
(2021) Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. American Journal of Human Genetics. pp. 1069-1082.
(2019) Biallelic <i>SQSTM1</i> mutations in early-onset, variably progressive neurodegeneration. European Journal of Human Genetics. pp. 311-312. ISSN 1018-4813
(2019) Homozygous Missense Variants in <i>NTNG2</i>, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder. American Journal of Human Genetics. pp. 1048-1056. ISSN 0002-9297
(2018) Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology. e319-e330. ISSN 1526-632X (Electronic) 0028-3878 (Print) 0028-3878 (Linking)