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Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?
Touhami R, Foddha H, Alix E, Jalloul A, Mougou-Zerelli S, Saad A, Sanlaville D, Haj Khelil A. Touhami R, et al. Among authors: saad a. Front Genet. 2023 Jan 9;13:1061539. doi: 10.3389/fgene.2022.1061539. eCollection 2022. Front Genet. 2023. PMID: 36778913 Free PMC article.
Multiplex Minisequencing of the HBB Gene: A Rapid Strategy to Confirm the Most Frequent β-Thalassemia Mutations in the Tunisian Population.
Ben Charfeddine I, Ben Lazreg T, M'sakni A, Amara A, Mlika A, Chaïeb A, Hlel K, Zouari N, Zbidi F, Bouguila J, Soyah N, Ayedi A, Ben Hamouda H, Abroug S, Boughamoura L, Saad A, Gribaa M. Ben Charfeddine I, et al. Among authors: saad a. Hemoglobin. 2015;39(4):251-5. doi: 10.3109/03630269.2015.1041605. Epub 2015 May 27. Hemoglobin. 2015. PMID: 26016902
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
Ben Charfeddine I, Riepe FG, Clauser E, Ayedi A, Makni S, Sfar MT, Sboui H, Kahloul N, Ben Hamouda H, Chouchane S, Trimech S, Zouari N, M'Rabet S, Amri F, Saad A, Holterhus PM, Gribaa M. Ben Charfeddine I, et al. Among authors: saad a. Gene. 2012 Oct 1;507(1):20-6. doi: 10.1016/j.gene.2012.07.027. Epub 2012 Jul 25. Gene. 2012. PMID: 22841790
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population.
Ghédir H, Gribaa M, Mamaî O, Ben Charfeddine I, Braham A, Amara A, Mehdi M, Saad A, Ibala-Romdhane S. Ghédir H, et al. Among authors: saad a. J Assist Reprod Genet. 2015 Nov;32(11):1651-8. doi: 10.1007/s10815-015-0565-4. Epub 2015 Sep 4. J Assist Reprod Genet. 2015. PMID: 26341096 Free PMC article.
2,150 results