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- 2016
-
Mark
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders
(
- Contribution to journal › Article
- 2014
-
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
- 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
- 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 Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions
(
- 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
(
- 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
(
- 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