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Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.
Kaiyrzhanov R, Thompson K, Efthymiou S, Mukushev A, Zharylkassyn A, Prasad C, Ghayoor Karimiani E, Alvi JR, Niyazov D, Alahmad A, Babaei M, Tajsharghi H, Albash B, Alaqeel A, Charif M, Hashemi N, Heidari M, Kalantar SM, Lenaers G, Vahidi Mehrjardi MY, Srinivasan VM, Gowda VK, Mirabutalebi SH, Carere DA, Movahedinia M, Murphy D, McFarland R, Abdel-Hamid MS, Elhossini RM, Alavi S, Napier M, Belanger-Quintana A, Prasad AN, Jakobczyk J, Roubertie A, Rupar T, Sultan T, Toosi MB, Sazanov L, Severino M, Houlden H, Taylor RW, Maroofian R. Kaiyrzhanov R, et al. Among authors: mirabutalebi sh. Brain Commun. 2024 Dec 17;7(1):fcae453. doi: 10.1093/braincomms/fcae453. eCollection 2025. Brain Commun. 2024. PMID: 39963288 Free PMC article.
Genomics and Transcriptomics: The Powerful Technologies in Precision Medicine.
Khodadadian A, Darzi S, Haghi-Daredeh S, Sadat Eshaghi F, Babakhanzadeh E, Mirabutalebi SH, Nazari M. Khodadadian A, et al. Among authors: mirabutalebi sh. Int J Gen Med. 2020 Sep 17;13:627-640. doi: 10.2147/IJGM.S249970. eCollection 2020. Int J Gen Med. 2020. PMID: 32982380 Free PMC article. Review.