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126 results

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Page 1
Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
Nagara M, Voskarides K, Nouira S, Ben Halim N, Kefi R, Aloulou H, Romdhane L, Ben Abdallah R, Ben Rhouma F, Aissa K, Boughamoura L, Kammoun T, Azzouz H, Abroug S, Ben Turkia H, Ayadi A, Mrad R, Chabchoub I, Hachicha M, Chemli J, Deltas C, Abdelhak S. Nagara M, et al. Among authors: chabchoub i. Genet Test Mol Biomarkers. 2014 Nov;18(11):741-8. doi: 10.1089/gtmb.2014.0175. Epub 2014 Oct 6. Genet Test Mol Biomarkers. 2014. PMID: 25285676 Free PMC article. Clinical Trial.
Comorbidity in the Tunisian population.
Romdhane L, Messaoud O, Bouyacoub Y, Kerkeni E, Naouali C, Cherif Ben Abdallah L, Tiar A, Charfeddine C, Monastiri K, Chabchoub I, Hachicha M, Tadmouri GO, Romeo G, Abdelhak S. Romdhane L, et al. Among authors: chabchoub i. Clin Genet. 2016 Mar;89(3):312-9. doi: 10.1111/cge.12616. Epub 2015 Jun 10. Clin Genet. 2016. PMID: 26010040
A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.
Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F. Chamkha I, et al. Among authors: chabchoub i. Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6. Biochem Biophys Res Commun. 2011. PMID: 21144833
Clinical and Genetic Characterization of 26 Tunisian Patients with Allgrove Syndrome.
Kallabi F, Belghuith N, Aloulou H, Kammoun T, Ghorbel S, Hajji M, Gallas S, Chemli J, Chabchoub I, Azzouz H, Ben Chehida A, Sfaihi L, Makni S, Amouri A, Keskes L, Tebib N, Ben Becher S, Hachicha M, Kamoun H. Kallabi F, et al. Among authors: chabchoub i. Arch Med Res. 2016 Feb;47(2):105-10. doi: 10.1016/j.arcmed.2016.04.004. Epub 2016 Apr 28. Arch Med Res. 2016. PMID: 27133709
Custom Next-Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys.
Said MB, Ayed IB, Elloumi I, Hasnaoui M, Souissi A, Idriss N, Aloulou H, Chabchoub I, Maâlej B, Driss D, Masmoudi S. Said MB, et al. Among authors: chabchoub i. Mol Genet Genomic Med. 2022 Feb;10(2):e1868. doi: 10.1002/mgg3.1868. Epub 2022 Jan 8. Mol Genet Genomic Med. 2022. PMID: 34997822 Free PMC article.
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: chabchoub i. 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.
126 results