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- Journal Article
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- open access
Neonatal lactic acidosis explained by LARS2 defect
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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- Journal Article
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Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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- Journal Article
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Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function
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- Journal Article
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Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain
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Complex III deficiency due to a homozygous mutation in the nuclear encoded subunit UQCRQ
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The clinical heterogeneity of the NARS2 c.822G>C mutation clearly illustrated in two siblings : epilepsy and myopathy
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Cyclic vomiting in a subject with homoplasmic m.14674T>C alteration
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- Journal Article
- A1
- open access
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency
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Tigecycline-induced inhibition of mitochondrial DNA translation may cause lethal mitochondrial dysfunction in humans