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Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence
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Mutations in TMEM70 causes severe encephalocardiomyopathy as well as mild encephalopathy
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Defining the pathogenesis of the human Atp12p W94R mutation using a Saccharomyces cerevisiae yeast model
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Subcomplexes of mitochondrial complex V reveal mutations in mitochondrial DNA
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Lactic Acidosis in a Newborn With Adrenal Calcifications
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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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Preimplantation genetic diagnosis of Marfan syndrome with the use of fluorescent polymerase chain reaction and the Automated Laser Fluorescence DNA sequencer