Repository of Research and Investigative Information

Repository of Research and Investigative Information

Shahid Sadoughi University of Medical Sciences

Items where Author is "Metanat, Z."

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Number of items: 5.

(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)

This list was generated on Mon Feb 10 15:50:29 2025 +0330.