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Evaluation of the effect of c.2946+1G>T mutation on splicing in the SCN1A gene.
Ben Mahmoud A, Ben Mansour R, Driss F, Baklouti-Gargouri S, Siala O, Mkaouar-Rebai E, Fakhfakh F. Ben Mahmoud A, et al. Among authors: ben mansour r. Comput Biol Chem. 2015 Feb;54:44-8. doi: 10.1016/j.compbiolchem.2015.01.003. Epub 2015 Jan 5. Comput Biol Chem. 2015. PMID: 25590135
A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome.
Fendri-Kriaa N, Boujilbene S, Kammoun F, Mkaouar-Rebai E, Ben Mahmoud A, Hsairi I, Rebai A, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Among authors: ben mahmoud a. Biochem Biophys Res Commun. 2011 May 20;408(4):654-7. doi: 10.1016/j.bbrc.2011.04.079. Epub 2011 Apr 21. Biochem Biophys Res Commun. 2011. PMID: 21531204
Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men.
Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L. Baklouti-Gargouri S, et al. Among authors: ben mahmoud a. Mol Biol Rep. 2013 Aug;40(8):4705-12. doi: 10.1007/s11033-013-2566-7. Epub 2013 May 6. Mol Biol Rep. 2013. PMID: 23645088
Identification of a novel m.9588G > a missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men.
Baklouti-Gargouri S, Ghorbel M, Ben Mahmoud A, Mkaouar-Rebai E, Cherif M, Chakroun N, Sellami A, Fakhfakh F, Ammar-Keskes L. Baklouti-Gargouri S, et al. Among authors: ben mahmoud a. J Assist Reprod Genet. 2014 May;31(5):595-600. doi: 10.1007/s10815-014-0187-2. Epub 2014 Feb 19. J Assist Reprod Genet. 2014. PMID: 24550096 Free PMC article.
A novel mutation MT-COIII m.9267G>C and MT-COI m.5913G>A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD) associated with severe nephropathy.
Tabebi M, Mkaouar-Rebai E, Mnif M, Kallabi F, Ben Mahmoud A, Ben Saad W, Charfi N, Keskes-Ammar L, Kamoun H, Abid M, Fakhfakh F. Tabebi M, et al. Among authors: ben mahmoud a, ben saad w. Biochem Biophys Res Commun. 2015 Apr 10;459(3):353-60. doi: 10.1016/j.bbrc.2015.01.151. Epub 2015 Feb 19. Biochem Biophys Res Commun. 2015. PMID: 25701779
A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations.
Kharrat M, Hsairi I, Fendri-Kriaa N, Kenoun H, Othmen HB, Ben Mahmoud A, Ghorbel R, Abid I, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: ben mahmoud a. J Child Neurol. 2015 Nov;30(13):1715-21. doi: 10.1177/0883073815578529. Epub 2015 Apr 10. J Child Neurol. 2015. PMID: 25862735
40 results