Repository of Research and Investigative Information
Ilam University of Medical Sciences
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(2023) A Novel Missense Mutation in the TGF-beta-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability. Advanced Biomedical Research. p. 114. ISSN 2277-9175 (Print) 2277-9175 (Electronic) 2277-9175 (Linking)
(2020) Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability. Gene. p. 144918. ISSN 1879-0038 (Electronic) 0378-1119 (Linking)