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Extremely high mutation load of the mitochondrial 8993 T>G mutation in a newborn: implications for prognosis and family planning decisions
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Lipomas : an unexpected phenotype of mitochondrial DNA mutations
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Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?
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Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects
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De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
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- Journal Article
- A1
- open access
A bumpy ride on the diagnostic bench of massive parallel sequencing, the case of the mitochondrial genome
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Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene
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- Journal Article
- A2
- open access
Clinical variability in neurohepatic syndrome due to combined mitochondrial DNA depletion and Gaucher disease
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Did lightning strike twice?
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Succinyl-CoA ligase deficiency : report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes