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) The clinical spectrum of the congenital myasthenic syndrome resulting from <i>COL13A1</i> mutations. Brain. pp. 1547-1560. ISSN 0006-8950