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A novel TBX1 missense mutation in patients with syndromic congenital heart defects.
Jaouadi A, Tabebi M, Abdelhedi F, Abid D, Kamoun F, Chabchoub I, Maatoug S, Doukali H, Belghuith N, Ksentini MA, Keskes LA, Triki C, Hachicha M, Kamoun S, Kamoun H. Jaouadi A, et al. Among authors: hachicha m. Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28. Biochem Biophys Res Commun. 2018. PMID: 29596833
Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.
Ammar M, Tabebi M, Sfaihi L, Alila-Fersi O, Maalej M, Felhi R, Chabchoub I, Keskes L, Hachicha M, Fakhfakh F, Mkaouar-Rebai E. Ammar M, et al. Among authors: hachicha m. Biochem Biophys Res Commun. 2016 Jun 10;474(4):702-708. doi: 10.1016/j.bbrc.2016.05.014. Epub 2016 May 4. Biochem Biophys Res Commun. 2016. PMID: 27155156
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: hachicha m. 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
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene.
Felhi R, Mkaouar-Rebai E, Sfaihi-Ben Mansour L, Alila-Fersi O, Tabebi M, Ben Rhouma B, Ammar M, Keskes L, Hachicha M, Fakhfakh F. Felhi R, et al. Among authors: hachicha m. Biochem Biophys Res Commun. 2016 Apr 22;473(1):61-66. doi: 10.1016/j.bbrc.2016.03.050. Epub 2016 Mar 16. Biochem Biophys Res Commun. 2016. PMID: 26993169
208 results