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- 2013
-
Mark
A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss
(
- Contribution to journal › Article
- 2011
-
Mark
Mitochondrial disorders caused by mutations in respiratory chain assembly factors
(
- Contribution to journal › Article
-
Mark
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions
(
- Contribution to journal › Article
- 2010
-
Mark
A de novo mutation in the adenosine triphosphatase (ATPase) 8 gene in a patient with mitochondrial disorder
(
- Contribution to journal › Article
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