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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: aloulou h. 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.
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: aloulou h. 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
Febrile seizures: an epidemiological and outcome study of 482 cases.
Sfaihi L, Maaloul I, Kmiha S, Aloulou H, Chabchoub I, Kamoun T, Hachicha M. Sfaihi L, et al. Among authors: aloulou h. Childs Nerv Syst. 2012 Oct;28(10):1779-84. doi: 10.1007/s00381-012-1789-6. Epub 2012 May 9. Childs Nerv Syst. 2012. PMID: 22570169
[Primary immunodeficiency disorders in 51 cases].
Lamia S, Aloulou H, Kamoun T, Chabchoub I, Ben Moustapha I, Barbouch R, Mongia H. Lamia S, et al. Among authors: aloulou h. Tunis Med. 2013 Jan;91(1):38-43. Tunis Med. 2013. PMID: 23404596 French.
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: aloulou h. 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.
72 results