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- 2017
-
Mark
Co segregation of the m.1555A>G mutation in the MT-RNR1 gene and mutations in MT-ATP6 gene in a family with dilated mitochondrial cardiomyopathy and hearing loss : A whole mitochondrial genome screening
(
- Contribution to journal › Article
- 2016
-
Mark
Mitochondrial DNA triplication and punctual mutations in patients with mitochondrial neuromuscular disorders
(
- 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