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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.
[Jarcho-Levin syndrome: report on one case].
Chabchoub I, Boukédi A, Turki H, Aloulou H, Kamoun T, Hachicha M. Chabchoub I, et al. Arch Pediatr. 2010 Apr;17(4):426-8. doi: 10.1016/j.arcped.2010.01.008. Epub 2010 Feb 26. Arch Pediatr. 2010. PMID: 20189365 French. No abstract available.
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
[Bardet - Biedl syndrome in the child. A study of 11 cases].
Aloulou H, Cheikhrouhou H, Belguith N, Ben Ameur S, Ben Mansour L, Chabchoub I, Kammoun T, Hachicha M. Aloulou H, et al. Among authors: chabchoub i. Tunis Med. 2011 Jan;89(1):31-6. Tunis Med. 2011. PMID: 21267825 French.
127 results