Miriam Schmidts
Geboren:
1978
Hat mitgewirkt an:
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Identification of a TPP1 Q278X mutation in an iranian patient with neuronal ceroid lipofuscinosis 2: literature review and mutations update
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Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking
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Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
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TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport