Fatemeh Vaghefi - Search Results

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Second report of TEDC1-related microcephaly caused by a novel biallelic mutation in an Iranian consanguineous family.

Sarli A, Al Sudani ZM, Vaghefi F, Motallebi F, Khosravi T, Rezaie N, Oladnabi M. Sarli A, et al. Among authors: vaghefi f. Mol Biol Rep. 2024 Jan 22;51(1):181. doi: 10.1007/s11033-023-09136-3. Mol Biol Rep. 2024. PMID: 38252227

A Rare Combination of Compound Heterozygous Mutations in the PAH Gene in Three Unrelated Consanguineous Iranian Families with Classical Phenylketonuria.

Rahimzadeh A, Khosravi T, Motallebi F, Al Sudani ZM, Vaghefi F, Kowsari A, Oladnabi M. Rahimzadeh A, et al. Among authors: vaghefi f. Adv Biomed Res. 2024 Aug 26;13:64. doi: 10.4103/abr.abr_471_23. eCollection 2024. Adv Biomed Res. 2024. PMID: 39434944 Free PMC article.

A novel biallelic 19-bp deletion in the IL10RB gene caused infant-onset inflammatory bowel disease in a consanguineous family: a molecular docking simulation study and literature review.

Motallebi F, Al Sudani ZM, Vaghefi F, Khosravi T, Rahimzadeh A, Kowsari A, Oladnabi M. Motallebi F, et al. Among authors: vaghefi f. Mol Biol Rep. 2024 Jan 28;51(1):223. doi: 10.1007/s11033-024-09248-4. Mol Biol Rep. 2024. PMID: 38281300 Review.

A comprehensive in silico analysis of mutation spectrum of maple syrup urine disease (MSUD) genes in Iranian population.

Rezaie N, Ghazanfari SS, Khosravi T, Vaghefi F, Oladnabi M. Rezaie N, et al. Among authors: vaghefi f. Mol Biol Res Commun. 2024;13(4):235-246. doi: 10.22099/mbrc.2024.49847.1958. Mol Biol Res Commun. 2024. PMID: 39315288 Free PMC article.

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