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Page 1
Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.
Mani R, Belkacem S, Soua Z, Chantot S, Montantin G, Tissier S, Copin B, Bouguila J, Rive Le Gouard N, Boughamoura L, Ben Ameur S, Hachicha M, Boussoffara R, Boussetta K, Hammouda S, Bedoui A, Besbes H, Meddeb S, Chraeit K, Khlifa M, Escudier E, Amselem S, Mabrouk I, Legendre M. Mani R, et al. Among authors: bouguila j. Hum Mutat. 2020 Jan;41(1):115-121. doi: 10.1002/humu.23905. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31469207
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F; Tunisian Network on Mental Retardation study. Jellouli NK, et al. J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27. J Hum Genet. 2014. PMID: 24573090
Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.
Ben Charfeddine I, Ben Lazreg T, M'sakni A, Amara A, Mlika A, Chaïeb A, Hlel K, Zouari N, Zbidi F, Bouguila J, Soyah N, Ayedi A, Ben Hamouda H, Abroug S, Boughamoura L, Saad A, Gribaa M. Ben Charfeddine I, et al. Among authors: bouguila j. Hemoglobin. 2015;39(4):251-5. doi: 10.3109/03630269.2015.1041605. Epub 2015 May 27. Hemoglobin. 2015. PMID: 26016902
Whole mitochondrial genome analysis in two families with dilated mitochondrial cardiomyopathy: detection of mutations in MT-ND2 and MT-TL1 genes.
Alila OF, Rebai EM, Tabebi M, Tej A, Chamkha I, Tlili A, Bouguila J, Tilouche S, Soyah N, Boughamoura L, Fakhfakh F. Alila OF, et al. Among authors: bouguila j. Mitochondrial DNA A DNA Mapp Seq Anal. 2016 Jul;27(4):2873-80. doi: 10.3109/19401736.2015.1060417. Epub 2015 Aug 10. Mitochondrial DNA A DNA Mapp Seq Anal. 2016. PMID: 26258512
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012).
Mellouli F, Mustapha IB, Khaled MB, Besbes H, Ouederni M, Mekki N, Ali MB, Larguèche B, Hachicha M, Sfar T, Gueddiche N, Barsaoui S, Sammoud A, Boussetta K, Becher SB, Meherzi A, Guandoura N, Boughammoura L, Harbi A, Amri F, Bayoudh F, Jaballah NB, Tebib N, Bouaziz A, Mahfoudh A, Aloulou H, Mansour LB, Chabchoub I, Boussoffara R, Chemli J, Bouguila J, Hassayoun S, Hammami S, Habboul Z, Hamzaoui A, Ammar J, Barbouche MR, Bejaoui M. Mellouli F, et al. Among authors: bouguila j. J Clin Immunol. 2015 Nov;35(8):745-53. doi: 10.1007/s10875-015-0206-9. Epub 2015 Oct 13. J Clin Immunol. 2015. PMID: 26464197 Review.
Epidemiology and clinical profile of pathogens responsible for the hospitalization of children in Sousse area, Tunisia.
Brini I, Guerrero A, Hannachi N, Bouguila J, Orth-Höller D, Bouhlel A, Boughamoura L, Hetzer B, Borena W, Schiela B, Von Laer D, Boukadida J, Stoiber H. Brini I, et al. Among authors: bouguila j. PLoS One. 2017 Nov 17;12(11):e0188325. doi: 10.1371/journal.pone.0188325. eCollection 2017. PLoS One. 2017. PMID: 29149199 Free PMC article.
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, Tabbebi M, Felhi R, Ammar M, Mkaouar-Rebai E, Keskes L, Boughamoura L, Fakhfakh F. Maalej M, et al. Among authors: bouguila j. Biochem Biophys Res Commun. 2018 Jan 8;495(2):1730-1737. doi: 10.1016/j.bbrc.2017.12.011. Epub 2017 Dec 5. Biochem Biophys Res Commun. 2018. PMID: 29217198
78 results