Author/Creator: Ben Mahmoud, Afif - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Ben Mahmoud, Afif

1. A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men. Issue 7 (17th June 2013)

Authors:: Baklouti‐Gargouri, Siwar; Ghorbel, Myriam; Ben Mahmoud, Afif; Mkaouar‐Rebai, Emna; Cherif, Meriam; Chakroun, Nozha; Sellami, Afifa; Fakhfakh, Faiza; Ammar‐Keskes, Leila
Journal:: Molecular reproduction and development
Issue:: Volume 80:Issue 7(2013:Jul.)
Page Start:: 581
Record Type:: Journal Article
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2. A novel MT-CO2 m.8249G > A pathogenic variation and the MT-TW m.5521G > A mutation in patients with mitochondrial myopathy. (October 2014)

Authors:: Mkaouar-Rebai, Emna; Ben Mahmoud, Afif; Chamkha, Imen; Chabchoub, Imen; Kammoun, Thouraya; Hachicha, Mongia; Fakhfakh, Faiza
Journal:: Mitochondrial DNA
Issue:: Volume 25:Number 5(2014:Oct.)
Page Start:: 394
Record Type:: Journal Article
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3. 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. (November 2015)

Authors:: Kharrat, Marwa; Hsairi, Ines; Fendri-Kriaa, Nourhene; Kenoun, Houda; Othmen, Houda Ben; Ben Mahmoud, Afif; Ghorbel, Rania; Abid, Imen; Triki, Chahnez; Fakhfakh, Faiza
Journal:: Journal of child neurology
Issue:: Volume 30:Number 13(2015:Nov.)
Page Start:: 1715
Record Type:: Journal Article
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4. Evaluation of the effect of c.2946 + 1G > T mutation on splicing in the SCN1A gene. (February 2015)

Authors:: Ben Mahmoud, Afif; Ben Mansour, Riadh; Driss, Fatma; Baklouti-Gargouri, Siwar; Siala, Olfa; Mkaouar-Rebai, Emna; Fakhfakh, Faiza
Journal:: Computational biology and chemistry
Issue:: Volume 54(2015)
Page Start:: 44
Record Type:: Journal Article
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5. Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect. Issue 165 (January 2017)

Authors:: Ben Rhouma, Bochra; Kallabi, Fakhri; Mahfoudh, Nadia; Ben Mahmoud, Afif; Engeli, Roger T.; Kamoun, Hassen; Keskes, Leila; Odermatt, Alex; Belguith, Neila
Journal:: Journal of steroid biochemistry and molecular biology
Issue:: Issue 165:Part A(2017)
Page Start:: 86
Record Type:: Journal Article
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