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Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Pušenjak MŠ, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: kahrizi k. HGG Adv. 2022 Jul 12;3(4):100122. doi: 10.1016/j.xhgg.2022.100122. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 35860725 Free PMC article.
Genetics of non-syndromic hearing loss in the Middle East.
Najmabadi H, Kahrizi K. Najmabadi H, et al. Among authors: kahrizi k. Int J Pediatr Otorhinolaryngol. 2014 Dec;78(12):2026-36. doi: 10.1016/j.ijporl.2014.08.036. Epub 2014 Sep 4. Int J Pediatr Otorhinolaryngol. 2014. PMID: 25281338 Review.
Calpains: Diverse Functions but Enigmatic.
Hosseini M, Najmabadi H, Kahrizi K. Hosseini M, et al. Among authors: kahrizi k. Arch Iran Med. 2018 Apr 1;21(4):170-179. Arch Iran Med. 2018. PMID: 29693408 Review.
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Škrjanec Pušenjak M, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: kahrizi k. HGG Adv. 2021 Jan 21;2(2):100024. doi: 10.1016/j.xhgg.2021.100024. eCollection 2021 Apr 8. HGG Adv. 2021. PMID: 35047834 Free PMC article.
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.
Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H. Iqbal Z, et al. Among authors: kahrizi k. Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173967 Free PMC article.
168 results