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Page 1
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
Ben Ayed I, Jallouli O, Murakami Y, Souissi A, Mallouli S, Bouzid A, Kamoun F, Elloumi I, Frikha F, Tlili A, Weckhuysen S, Kinoshita T, Triki CC, Masmoudi S. Ben Ayed I, et al. Among authors: bouzid a. Front Neurol. 2023 Mar 9;14:1092887. doi: 10.3389/fneur.2023.1092887. eCollection 2023. Front Neurol. 2023. PMID: 36970549 Free PMC article.
CDC14A phosphatase is essential for hearing and male fertility in mouse and human.
Imtiaz A, Belyantseva IA, Beirl AJ, Fenollar-Ferrer C, Bashir R, Bukhari I, Bouzid A, Shaukat U, Azaiez H, Booth KT, Kahrizi K, Najmabadi H, Maqsood A, Wilson EA, Fitzgerald TS, Tlili A, Olszewski R, Lund M, Chaudhry T, Rehman AU, Starost MF, Waryah AM, Hoa M, Dong L, Morell RJ, Smith RJH, Riazuddin S, Masmoudi S, Kindt KS, Naz S, Friedman TB. Imtiaz A, et al. Among authors: bouzid a. Hum Mol Genet. 2018 Mar 1;27(5):780-798. doi: 10.1093/hmg/ddx440. Hum Mol Genet. 2018. PMID: 29293958 Free PMC article.
CDH23 Methylation Status and Presbycusis Risk in Elderly Women.
Bouzid A, Smeti I, Chakroun A, Loukil S, Gibriel AA, Grati M, Ghorbel A, Masmoudi S. Bouzid A, et al. Front Aging Neurosci. 2018 Aug 7;10:241. doi: 10.3389/fnagi.2018.00241. eCollection 2018. Front Aging Neurosci. 2018. PMID: 30131691 Free PMC article.
Gene duplication and functional divergence of the zebrafish otospiralin genes.
Baanannou A, Rastegar S, Bouzid A, Takamiya M, Gerber V, Souissi A, Beil T, Jrad O, Strähle U, Masmoudi S. Baanannou A, et al. Among authors: bouzid a. Dev Genes Evol. 2020 Jan;230(1):27-36. doi: 10.1007/s00427-019-00642-8. Epub 2019 Dec 14. Dev Genes Evol. 2020. PMID: 31838648
SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition.
Ben Ayed I, Ouarda W, Frikha F, Kammoun F, Souissi A, Ben Said M, Bouzid A, Elloumi I, Hamdani TM, Gharbi N, Baklouti N, Guirat M, Mejdoub F, Kharrat N, Boujelbene I, Abdelhedi F, Belguith N, Keskes L, Gibriel AA, Kamoun H, Triki C, Alimi AM, Masmoudi S. Ben Ayed I, et al. Among authors: bouzid a. Am J Med Genet A. 2021 Apr;185(4):1081-1090. doi: 10.1002/ajmg.a.62065. Epub 2021 Jan 6. Am J Med Genet A. 2021. PMID: 33403770
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population.
Souissi A, Ben Said M, Ben Ayed I, Elloumi I, Bouzid A, Mosrati MA, Hasnaoui M, Belcadhi M, Idriss N, Kamoun H, Gharbi N, Gibriel AA, Tlili A, Masmoudi S. Souissi A, et al. Among authors: bouzid a. J Adv Res. 2021 Jan 12;31:13-24. doi: 10.1016/j.jare.2021.01.005. eCollection 2021 Jul. J Adv Res. 2021. PMID: 34194829 Free PMC article.
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, Aouichaoui S, Abid D, Abdelhedi F, Triki C, Kamoun H, Masmoudi S. Ben Ayed I, et al. Among authors: bouzid a. Mol Genet Genomic Med. 2021 Nov;9(11):e1811. doi: 10.1002/mgg3.1811. Epub 2021 Sep 22. Mol Genet Genomic Med. 2021. PMID: 34549899 Free PMC article.
Further insights into the spectrum phenotype of TRAPPC9 and CDK5RAP2 genes, segregating independently in a large Tunisian family with intellectual disability and microcephaly.
Ben Ayed I, Bouchaala W, Bouzid A, Feki W, Souissi A, Ben Nsir S, Ben Said M, Sammouda T, Majdoub F, Kharrat I, Kamoun F, Elloumi I, Kamoun H, Tlili A, Masmoudi S, Triki C. Ben Ayed I, et al. Among authors: bouzid a. Eur J Med Genet. 2021 Dec;64(12):104373. doi: 10.1016/j.ejmg.2021.104373. Epub 2021 Oct 29. Eur J Med Genet. 2021. PMID: 34737153
119 results