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Next-generation sequencing reveals a novel pathogenic variant in the ATM gene.
Int J Neurosci. 2022 Jun;132(6):558-562. doi: 10.1080/00207454.2020.1826944. Epub 2021 Jan 24.
Int J Neurosci. 2022.
PMID: 32962506
A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
Tabatabaiefar MA, Alipour P, Pourahmadiyan A, Fattahi N, Shariati L, Golchin N, Mohammadi-Asl J.
Tabatabaiefar MA, et al. Among authors: pourahmadiyan a.
J Neurol Sci. 2017 Aug 15;379:212-216. doi: 10.1016/j.jns.2017.06.012. Epub 2017 Jun 12.
J Neurol Sci. 2017.
PMID: 28716242
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A pathogenic variant in SLC26A4 is associated with Pendred syndrome in a consanguineous Iranian family.
Pourahmadiyan A, Alipour P, Fattahi N, Kasiri M, Rezaeian F, Taghipour-Sheshdeh A, Mohammadi-Asl J, Tabatabaiefar MA, Hashemzadeh Chaleshtori M.
Pourahmadiyan A, et al.
Int J Audiol. 2019 Oct;58(10):628-634. doi: 10.1080/14992027.2019.1619945. Epub 2019 Jun 12.
Int J Audiol. 2019.
PMID: 31187663
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A novel pathogenic variant of BRAT1 gene causes rigidity and multifocal seizure syndrome, lethal neonatal.
Pourahmadiyan A, Heidari M, Shojaaldini Ardakani H, Noorian S, Savad S.
Pourahmadiyan A, et al.
Int J Neurosci. 2021 Sep;131(9):875-878. doi: 10.1080/00207454.2020.1759589. Epub 2020 Apr 29.
Int J Neurosci. 2021.
PMID: 32345087
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Identification of a Novel de novo Splicing Mutation in Duchenne Muscular Dystrophy Gene in an Iranian Family.
Kavousi S, Pourahmadiyan A, Soleymani F, Noruzinia M.
Kavousi S, et al. Among authors: pourahmadiyan a.
Mol Syndromol. 2023 Aug;14(4):331-340. doi: 10.1159/000528035. Epub 2023 Mar 31.
Mol Syndromol. 2023.
PMID: 37766830
Free PMC article.
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