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Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
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Ultrastructural localization of cytochrome c in apoptosis demonstrates mitochondrial heterogeneity.
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Arg-Cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome.
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Mitochondrial cytopathies and neuromuscular disorders.
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Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene.
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A novel mitochondrial transfer RNA proline mutation.
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A novel disorder in a newborn caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
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Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis.
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Myopathy in very-long-chain acyl-CoA dehydrogenase deficiency: clinical and biochemical differences with the fatal cardiac phenotype.
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Neurocutaneous melanosis presenting with intracranial amelanotic melanoma.