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Page 1
Mitochondrial mutations in non-syndromic hearing loss at UAE.
Mohamed WKE, Arnoux M, Cardoso THS, Almutery A, Tlili A. Mohamed WKE, et al. Among authors: tlili a. Int J Pediatr Otorhinolaryngol. 2020 Nov;138:110286. doi: 10.1016/j.ijporl.2020.110286. Epub 2020 Aug 7. Int J Pediatr Otorhinolaryngol. 2020. PMID: 32871514
Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Maalej M, Sfaihi L, Ammar M, Frikha F, Kharrat M, Alila-Fersi O, Mkaouar-Rebai E, Tlili A, Kammoun T, Fakhfakh F. Maalej M, et al. Among authors: tlili a. Neurogenetics. 2022 Oct;23(4):257-270. doi: 10.1007/s10048-022-00696-3. Epub 2022 Jul 11. Neurogenetics. 2022. PMID: 35819538
A novel homozygous PIGO mutation associated with severe infantile epileptic encephalopathy, profound developmental delay and psychomotor retardation: structural and 3D modelling investigations and genotype-phenotype correlation.
Aguech A, Sfaihi L, Alila-Fersi O, Kolsi R, Tlili A, Kammoun T, Fendri A, Fakhfakh F. Aguech A, et al. Among authors: tlili a. Metab Brain Dis. 2023 Dec;38(8):2665-2678. doi: 10.1007/s11011-023-01276-6. Epub 2023 Sep 1. Metab Brain Dis. 2023. PMID: 37656370
52 results