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A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Hosseinpour S, Razmara E, Heidari M, Rezaei Z, Ashrafi MR, Dehnavi AZ, Kameli R, Bereshneh AH, Vahidnezhad H, Azizimalamiri R, Zamani Z, Pak N, Rasulinezhad M, Mohammadi B, Ghabeli H, Ghafouri M, Mohammadi M, Zamani GR, Badv RS, Saket S, Rabbani B, Mahdieh N, Ahani A, Garshasbi M, Tavasoli AR. Hosseinpour S, et al. Among authors: mahdieh n. Brain Dev. 2024 Apr;46(4):167-179. doi: 10.1016/j.braindev.2023.12.003. Epub 2023 Dec 21. Brain Dev. 2024. PMID: 38129218
Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.
Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M. Diaz-Horta O, et al. Among authors: mahdieh n. PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30. PLoS One. 2012. PMID: 23226338 Free PMC article.
GJB2 mutations: passage through Iran.
Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJ. Najmabadi H, et al. Among authors: mahdieh n. Am J Med Genet A. 2005 Mar 1;133A(2):132-7. doi: 10.1002/ajmg.a.30576. Am J Med Genet A. 2005. PMID: 15666300
Mutation analysis of the CYP21A2 gene in the Iranian population.
Rabbani B, Mahdieh N, Ashtiani MT, Larijani B, Akbari MT, New M, Parsa A, Schouten JP, Rabbani A. Rabbani B, et al. Among authors: mahdieh n. Genet Test Mol Biomarkers. 2012 Feb;16(2):82-90. doi: 10.1089/gtmb.2011.0099. Epub 2011 Oct 21. Genet Test Mol Biomarkers. 2012. PMID: 22017335 Free PMC article.
87 results