Elham Salehi Siavashani - Search Results

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2021	2
2023	1
2025	0

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Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report.

Siavashani ES, Ashrafi MR, Ghabeli H, Heidari M, Garshasbi M. Siavashani ES, et al. BMC Med Genomics. 2023 Sep 26;16(1):226. doi: 10.1186/s12920-023-01643-3. BMC Med Genomics. 2023. PMID: 37752557 Free PMC article.

A novel metabolic disorder in the degradation pathway of endogenous methanol due to a mutation in the gene of alcohol dehydrogenase.

Razzaghy-Azar M, Nourbakhsh M, Vafadar M, Nourbakhsh M, Talebi S, Sharifi-Zarchi A, Salehi Siavashani E, Garshasbi M. Razzaghy-Azar M, et al. Among authors: salehi siavashani e. Clin Biochem. 2021 Apr;90:66-72. doi: 10.1016/j.clinbiochem.2021.01.007. Epub 2021 Feb 2. Clin Biochem. 2021. PMID: 33539811

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Mohammadi P, Salehi Siavashani E, Mohammadi MF, Bahramy A, Almadani N, Garshasbi M. Mohammadi P, et al. Among authors: salehi siavashani e. Mol Genet Genomic Med. 2021 Nov;9(11):e1834. doi: 10.1002/mgg3.1834. Epub 2021 Oct 12. Mol Genet Genomic Med. 2021. PMID: 34636477 Free PMC article.

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