Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2022) Co-segregation of variant NSUN2 Lue198Arg among Iranian family with intellectual disability: a case report. Egyptian Journal of Medical Human Genetics. p. 11. ISSN 1110-8630
(2022) Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families. Journal of Clinical Laboratory Analysis.
(2021) Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum. Brain : a journal of neurology. e30.
(2021) Incomplete penetrance of autosomal recessive anophthalmia in a large consanguineous family. Ophthalmic Genetics.
(2017) A Novel Missense Mutation in the ALDH13 Gene Causes Anophthalmia in Two Unrelated Iranian Consanguineous Families. International Journal of Molecular and Cellular Medicine. pp. 131-134. ISSN 2251-9637 (Print) 2251-9645 (Electronic) 2251-9637 (Linking)