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A new pathogenic mutation in the iron-sulfur cluster assembly gene IBA57 causes impaired protein function leading to massive early leukoencephalopathy
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The minimum information about a genome sequence (MIGS) specification
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Infantile presentation of the mitochondrial A8344G mutation.
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Follow-up of spinal and brain MRI and proton MRS in a girl with bilateral optic neuropathy, additional CNS symptoms and complex I deficiency (LHON plus, MS-like disease)
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Het belang van ondersteunende communicatie voor een gebruiker en zijn direkte omgeving