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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: ben said m, ben nsir s. 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
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: ben said m. 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: ben said m, ben ayed i. 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. 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.
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. Front Neurol. 2023 Mar 9;14:1092887. doi: 10.3389/fneur.2023.1092887. eCollection 2023. Front Neurol. 2023. PMID: 36970549 Free PMC article.
Evaluation of X chromosome inactivation in endemic Tunisian pemphigus foliaceus.
Abida O, Elloumi N, Bahloul E, Hachicha H, Sellami K, Fakhfakh R, Marzouk S, Ben Ayed I, Mahfoudh N, Turki H, Masmoudi H. Abida O, et al. Among authors: ben ayed i. Mol Genet Genomic Med. 2022 Dec;10(12):e2080. doi: 10.1002/mgg3.2080. Epub 2022 Nov 9. Mol Genet Genomic Med. 2022. PMID: 36349750 Free PMC article.
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