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Clinical implementation of RNA sequencing for Mendelian disease diagnostics
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Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
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Mutations in PEX10 are a cause of autosomal recessive ataxia
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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A new family with the mitochondrial tRNAGLU gene mutation m.14709T > C presenting with hydrops fetalis
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A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure
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Fatal outcome of pyruvate loading test in child with restrictive cardiomyopathy