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Page 1
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved.
Mezzi N, Messaoud O, Mkaouar R, Zitouna N, Romdhane S, Abdessalem G, Charfeddine C, Maazoul F, Ouerteni I, Hamdi Y, Zaouak A, Mrad R, Abdelhak S, Romdhane L. Mezzi N, et al. Among authors: mkaouar r. Genes (Basel). 2021 Nov 19;12(11):1820. doi: 10.3390/genes12111820. Genes (Basel). 2021. PMID: 34828426 Free PMC article.
Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology.
Lahbib S, Leblond CS, Hamza M, Regnault B, Lemée L, Mathieu A, Jaouadi H, Mkaouar R, Youssef-Turki IB, Belhadj A, Kraoua I, Bourgeron T, Abdelhak S. Lahbib S, et al. Among authors: mkaouar r. J Appl Genet. 2019 Feb;60(1):49-56. doi: 10.1007/s13353-018-0472-3. Epub 2018 Oct 4. J Appl Genet. 2019. PMID: 30284680
A Tunisian family with a novel mutation in the gene CYP4F22 for lamellar ichthyosis and co-occurrence of hearing loss in a child due to mutation in the SLC26A4 gene.
Sayeb M, Riahi Z, Laroussi N, Bonnet C, Romdhane L, Mkaouar R, Zaouak A, Marrakchi J, Abdessalem G, Messaoud O, Bouchniba O, Ghilane N, Mokni M, Besbes G, Yacoub-Youssef H, Petit C, Abdelhak S. Sayeb M, et al. Among authors: mkaouar r. Int J Dermatol. 2019 Dec;58(12):1439-1443. doi: 10.1111/ijd.14452. Epub 2019 Apr 25. Int J Dermatol. 2019. PMID: 31020658
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment.
Mkaouar R, Riahi Z, Charfeddine C, Chelly I, Boudabbous H, Dallali H, Bonnet C, Hechmi M, Bekri S, Zitouna N, Zekri L, Tounsi A, Kefi R, Marrakchi J, Messaoud O, Kraoua I, Maalej S, Turki Ben Youssef I, Ben Hmid A, Giraudet F, Bouchoucha S, Tebib N, Besbes G, Petit C, Mrad R, Abdelhak S, Trabelsi M. Mkaouar R, et al. PLoS One. 2021 Oct 6;16(10):e0258202. doi: 10.1371/journal.pone.0258202. eCollection 2021. PLoS One. 2021. PMID: 34614013 Free PMC article.
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H. Charfeddine C, et al. Among authors: mkaouar r. PLoS One. 2021 Oct 20;16(10):e0258777. doi: 10.1371/journal.pone.0258777. eCollection 2021. PLoS One. 2021. PMID: 34669720 Free PMC article.
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health.
Mkaouar R, Riahi Z, Marrakchi J, Mezzi N, Romdhane L, Boujemaa M, Dallali H, Sayeb M, Lahbib S, Jaouadi H, Boudabbous H, Zekri L, Chargui M, Messaoud O, Elyounsi M, Kraoua I, Zaouak A, Turki I, Mokni M, Boucher S, Petit C, Giraudet F, Mbarek C, Besbes G, Halayem S, Zainine R, Turki H, Tounsi A, Bonnet C, Mrad R, Abdelhak S, Trabelsi M, Charfeddine C. Mkaouar R, et al. Front Genet. 2024 Apr 22;15:1384094. doi: 10.3389/fgene.2024.1384094. eCollection 2024. Front Genet. 2024. PMID: 38711914 Free PMC article.
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