Author/Creator: Mkaouar-Rebai, Emna - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Mkaouar-Rebai, Emna

1. 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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2. 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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3. In silico investigation of the impact of synonymous variants in ABCB4 gene on mRNA stability/structure, splicing accuracy and codon usage: Potential contribution to PFIC3 disease. (December 2016)

Authors:: Khabou, Boudour; Siala-Sahnoun, Olfa; Gargouri, Lamia; Mkaouar-Rebai, Emna; Keskes, Leila; Hachicha, Mongia; Fakhfakh, Faiza
Journal:: Computational biology and chemistry
Issue:: Volume 65(2016)
Page Start:: 103
Record Type:: Journal Article
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4. Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: An overview study. (June 2013)

Authors:: Mkaouar-Rebai, Emna; Chamkha, Imen; Mezghani, Najla; Ayed, Imen Ben; Fakhfakh, Faiza
Journal:: Mitochondrial DNA
Issue:: Volume 24:Number 3(2013:Jun.)
Page Start:: 163
Record Type:: Journal Article
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5. Whole mitochondrial genome screening in two families with hearing loss: detection of a novel mutation in the 12S rRNA gene. Issue 6 (24th September 2010)

Authors:: Mkaouar-Rebai, Emna; Fendri-Kriaa, Nourhene; Louhichi, Nacim; Tlili, Abdelaziz; Triki, Chahnez; Ghorbel, Abdelmoneem; Masmoudi, Saber; Fakhfakh, Faiza
Journal:: Bioscience reports
Issue:: Volume 30:Issue 6(2010)
Page Start:: 405
Record Type:: Journal Article
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