Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
  |
 | Up a level |
(2022) Biallelic variants in <i>ZNF142</i> lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109. ISSN 0009-9163
(2022) Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder. Clinical Genetics. pp. 98-109.
(2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology. pp. 1465-1474.
(2021) Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain : a journal of neurology. e30.