Resultados da pesquisa - Cate Walsh Vockley

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  1. 1
    Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of<i>PTC1</i>-like domains in<i>NPC1</i>

    Identification of 58 novel mutations in Niemann-Pick disease type C: Correlation with biochemical phenotype and importance of<i>PTC1</i>-like domains in<i>NPC1</i> Por Walter D. Park, John F. O’Brien, Patrick A. Lundquist, Daniel Kraft, Cate Walsh Vockley, Pamela S. Karnes, Marc C. Patterson, Karen Snow

    Publicado em 2003
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  2. 2
    Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database

    Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database Por Loren Peña, Sandra C. Van Calcar, Joyanna Hansen, Mathew J. Edick, Cate Walsh Vockley, Nancy Leslie, Cynthia A. Cameron, Al‐Walid Mohsen, Susan A. Berry, Georgianne L. Arnold, Jerry Vockley

    Publicado em 2016
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