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Genome Tunisia Project: paving the way for precision medicine in North Africa.
Hamdi Y, Trabelsi M, Ghedira K, Boujemaa M, Ben Ayed I, Charfeddine C, Souissi A, Rejeb I, Kammoun Rebai W, Hkimi C, Neifar F, Jandoubi N, Mkaouar R, Chaouch M, Bennour A, Kamoun S, Chaker Masmoudi H, Abid N, Mezghani Khemakhem M; GTCA Consortium; Masmoudi S, Saad A, BenJemaa L, BenKahla A, Boubaker S, Mrad R, Kamoun H, Abdelhak S, Gribaa M, Belguith N, Kharrat N, Hmida D, Rebai A. Hamdi Y, et al. Among authors: masmoudi s. Genome Med. 2024 Aug 27;16(1):104. doi: 10.1186/s13073-024-01365-w. Genome Med. 2024. PMID: 39187811 Free PMC article.
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.
Ben Said M, Jallouli O, Ben Aissa A, Souissi A, Kamoun F, Fakhfakh F, Masmoudi S, Ben Ayed I, Charfi Triki C. Ben Said M, et al. Among authors: masmoudi s. Epilepsia Open. 2024 Oct;9(5):1697-1709. doi: 10.1002/epi4.12848. Epub 2024 Jul 25. Epilepsia Open. 2024. PMID: 37867425 Free PMC article.
Functional analysis of MMR gene VUS from potential Lynch syndrome patients.
Mahdouani M, Zhuri D, Sezginer Guler H, Hmida D, Sana M, Azaza M, Ben Said M, Masmoudi S, Hmila F, Youssef S, Ben Sghaier R, Brieger A, Zeuzem S, Saad A, Gurkan H, Yalcintepe S, Gribaa M, Plotz G. Mahdouani M, et al. Among authors: masmoudi s. PLoS One. 2024 Jun 6;19(6):e0304141. doi: 10.1371/journal.pone.0304141. eCollection 2024. PLoS One. 2024. PMID: 38843250 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. Among authors: masmoudi s. Front Neurol. 2023 Mar 9;14:1092887. doi: 10.3389/fneur.2023.1092887. eCollection 2023. Front Neurol. 2023. PMID: 36970549 Free PMC article.
A Tunisian patient with CLCN2-related leukoencephalopathy.
Ben Mohamed D, Saied Z, Ben Sassi S, Ben Said M, Nabli F, Achouri A, Jeridi C, Masmoudi S, Amouri R. Ben Mohamed D, et al. Among authors: masmoudi s. Clin Case Rep. 2022 Dec 26;10(12):e6737. doi: 10.1002/ccr3.6737. eCollection 2022 Dec. Clin Case Rep. 2022. PMID: 36583195 Free PMC article.
Sudden transient blindness following ureteroscopy: an uncommon complication of a common procedure (a case report).
Gazzah W, Masmoudi S, Chakroun H, Lahouar R, Zaidi B, Khalifa BB, Naouar S, Salem B. Gazzah W, et al. Among authors: masmoudi s. Pan Afr Med J. 2024 Apr 22;47:201. doi: 10.11604/pamj.2024.47.201.42952. eCollection 2024. Pan Afr Med J. 2024. Retraction in: Pan Afr Med J. 2024 Aug 09;48:167. doi: 10.11604/pamj.2024.48.167.43984 PMID: 39247781 Free PMC article. Retracted.
167 results