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Clinical implementation of gene panel testing for lysosomal storage diseases
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TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism
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Expanding the clinical spectrum of biallelic ZNF335 variants
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Pathogenic mutations in TMEM126b, a recently discovered complex I assembly factor, identified in four siblings from two Belgian families
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Multiple symmetrical lipomatosis: an uncommon presentation of a mitochondrial disease
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Lipomas : an unexpected phenotype of mitochondrial DNA mutations
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Succinyl-CoA ligase deficiency : report on the first patient resulting from a combined defect in SUGL1 an SUGL2 genes
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Inborn oxidative phosphorylation defect as risk factor for propofol infusion syndrome
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TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria
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Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T > C