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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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- 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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- 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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Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: case study and literature review
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A novel compound heterozygous mutation in NFU1 as cause of iron-sulfur cluster biosynthesis
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Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)
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Fatal outcome of iron-sulfur cluster scaffold NFU1 gene mutations in a neonatal patient
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Proteomic analysis in giant axonal neuropathy: new insights into disease mechanisms