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- 2014
-
Mark
A mitochondrial implication in a Tunisian patient with Friedreich's ataxia-like
(
- Contribution to journal › Article
-
Mark
A novel MT-CO2 m.8249G>A pathogenic variation and the MT-TW m.5521G>A mutation in patients with mitochondrial myopathy
(
- Contribution to journal › Article
- 2012
-
Mark
A novel m.12908T>a mutation in the mitochondrial ND5 gene in patient with infantile-onset Pompe disease
(
- Contribution to journal › Article
- 2011
-
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
(
- 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
(
- 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
(
- Contribution to journal › Article