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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: kamoun h, kamoun s, kamoun f. 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
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: kamoun h. 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
8q21.11 microdeletion syndrome: Delineation of HEY1 as a candidate gene in neurodevelopmental and cardiac defects.
Ben Ayed I, Bouzid A, Kammoun F, Souissi A, Jallouli O, Mallouli S, Guidara S, Loukil S, Aloulou H, Jbeli F, Aouichaoui S, Abid D, Abdelhedi F, Triki C, Kamoun H, Masmoudi S. Ben Ayed I, et al. Among authors: kamoun h. Mol Genet Genomic Med. 2021 Nov;9(11):e1811. doi: 10.1002/mgg3.1811. Epub 2021 Sep 22. Mol Genet Genomic Med. 2021. PMID: 34549899 Free PMC article.
A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.
Ben Rhouma B, Belguith N, Mnif MF, Kamoun T, Charfi N, Kamoun M, Abdelhedi F, Hachicha M, Kamoun H, Abid M, Fakhfakh F. Ben Rhouma B, et al. Among authors: kamoun m, kamoun h, kamoun t. J Sex Med. 2013 Oct;10(10):2586-9. doi: 10.1111/j.1743-6109.2012.02763.x. Epub 2012 May 17. J Sex Med. 2013. PMID: 22594312
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: kamoun h. 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
80 results