Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
  |
 | Up a level |
(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