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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
Clinical, Molecular, and Computational Analysis in Patients With a Novel Double Mutation and a New Synonymous Variant in MeCP2: Report of the First Missense Mutation Within the AT-hook1 Cluster in Rett Syndrome.
Kharrat M, Kamoun Y, Kamoun F, Ellouze E, Maalej M, Fendri-Kriaa N, Ammar-Keskes L, Belghith N, Gargouri A, Triki C, Fakhfakh F. Kharrat M, et al. Among authors: kamoun y, kamoun f. J Child Neurol. 2017 Jul;32(8):694-703. doi: 10.1177/0883073817701622. Epub 2017 Apr 11. J Child Neurol. 2017. PMID: 28399682
A novel MECP2 gene mutation in a Tunisian patient with Rett syndrome.
Fendri-Kriaa N, Abdelkafi Z, Rebeh IB, Kamoun F, Triki C, Fakhfakh F. Fendri-Kriaa N, et al. Among authors: kamoun f. Genet Test Mol Biomarkers. 2009 Feb;13(1):109-13. doi: 10.1089/gtmb.2008.0076. Genet Test Mol Biomarkers. 2009. PMID: 19309283
Combined in Silico Prediction Methods, Molecular Dynamic Simulation, and Molecular Docking of FOXG1 Missense Mutations: Effect on FoxG1 Structure and Its Interactions with DNA and Bmi-1 Protein.
Kharrat M, Triki CC, Alila-Fersi O, Jallouli O, Khemakham B, Mallouli S, Maalej M, Ammar M, Frikha F, Kamoun F, Fakhfakh F. Kharrat M, et al. Among authors: kamoun f. J Mol Neurosci. 2022 Aug;72(8):1695-1705. doi: 10.1007/s12031-022-02032-8. Epub 2022 Jun 2. J Mol Neurosci. 2022. PMID: 35654936
[Aicardi syndrome associated with severe congenital ptosis].
Chabchoub I, Kamoun F, Daoued E, Ben Mansour L, Kmiha S, Kamoun T, Mnif Z, Hachicha M. Chabchoub I, et al. Among authors: kamoun t, kamoun f. Arch Pediatr. 2011 Sep;18(9):970-3. doi: 10.1016/j.arcped.2011.06.004. Epub 2011 Aug 4. Arch Pediatr. 2011. PMID: 21820292 French.
67 results