Imen Chamkha

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2012
Mark A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease
Chamkha, Imen ^LU ; Alila-Fersi, Olfa ; Mkaouar-Rebai, Emna ; Aloulou, Hajer ; Kifagi, Chamseddine ^LU ; Hachicha, Mongia and Fakhfakh, Faiza (2012) In Biochemical and Biophysical Research Communications 429(1-2). p.8-31
- Contribution to journal › Article
Mark Possible association of a novel missense mutation A6375G in the mitochondrial cytochrome C oxidase I gene with asthenospermia in the Tunisian population
Baklouti-Gargouri, Siwar ; Ghorbel, Myriam ; Chamkha, Imen ^LU ; Mkaouar-Rebai, Emna ; Sellami, Afifa ; Chakroun, Nozha ; Fakhfakh, Faiza and Ammar-Keskes, Leila (2012) In Genetic Testing and Molecular Biomarkers 16(11). p.302-1298
- Contribution to journal › Article
2011
Mark A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions
Ayed, Imen Ben ; Chamkha, Imen ^LU ; Mkaouar-Rebai, Emna ; Kammoun, Thouraya ; Mezghani, Najla ; Chabchoub, Imen ; Aloulou, Hajer ; Hachicha, Mongia and Fakhfakh, Faiza (2011) In Biochemical and Biophysical Research Communications 411(2). p.6-381
- Contribution to journal › Article
Mark A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss
Chamkha, Imen ^LU ; Mkaouar-Rebai, Emna ; Aloulou, Hajer ; Chabchoub, Imen ; Kifagi, Chamseddine ^LU ; Fendri-Kriaa, Nourhene ; Kammoun, Thouraya ; Hachicha, Mongia and Fakhfakh, Faiza (2011) In Biochemical and Biophysical Research Communications 404(1). p.10-504
- Contribution to journal › Article
Mark Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene
Mkaouar-Rebai, Emna ; Ellouze, Emna ; Chamkha, Imen ^LU ; Kammoun, Fatma ; Triki, Chahnez and Fakhfakh, Faiza (2011) In Journal of Child Neurology 26(1). p.12-20
- Contribution to journal › Article
2010
Mark A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles
Mkaouar-Rebai, Emna ; Chamkha, Imen ^LU ; Kammoun, Thouraya ; Chabchoub, Imen ; Aloulou, Hajer ; Fendri, Nourhene ; Hachicha, Mongia and Fakhfakh, Faiza (2010) In Mitochondrion 10(5). p.55-449
- Contribution to journal › Article
Mark A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder
Mkaouar-Rebai, Emna ; Kammoun, Fatma ; Chamkha, Imen ^LU ; Kammoun, Nadège ; Hsairi, Ines ; Triki, Chahnez and Fakhfakh, Faiza (2010) In Journal of Child Neurology 25(6). p.5-770
- Contribution to journal › Article
2009
Mark Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome
Mkaouar-Rebai, Emna ; Chamkha, Imen ^LU ; Kammoun, Fatma ; Kammoun, Thouraya ; Aloulou, Hajer ; Hachicha, Mongia ; Triki, Chahnez and Fakhfakh, Faiza (2009) In Molecular Genetics and Metabolism 97(3). p.84-179
- Contribution to journal › Article

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