检索结果 - Paul M. Fernhoff

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  1. 1
    Diagnosis of Fabry Disease via Analysis of Family History

    Diagnosis of Fabry Disease via Analysis of Family History 由 Dawn A. Laney, Paul M. Fernhoff

    出版 2008
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  2. 2
    Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

    Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability 由 Andrés Moreno-De-Luca, S. L. Helmers, Hui Mao, Thomas G. Burns, A. M. A. Melton, Karen Russell Schmidt, Paul M. Fernhoff, D H Ledbetter, Christa Lese Martin

    出版 2010
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  3. 3
    Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase

    Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase 由 Ari Zimran, Gregory M. Pastores, Anna Tylki‐Szymańska, Derralynn Hughes, Deborah Elstein, Rebecca Mardach, Christine M. Eng, Laurie D. Smith, Margaret A. Heisel‐Kurth, Joel Charrow, Paul Harmatz, Paul M. Fernhoff, William J. Rhead, Nicola Longo, Pilar Giraldo, Juan Ruiz, David M. Zahrieh, Eric Crombez, Gregory A. Grabowski

    出版 2012
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  4. 4
    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

    Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes 由 Zhishuo Ou, Paweł Stankiewicz, Zhilian Xia, Amy M. Breman, Brian Dawson, Joanna Wiszniewska, Przemysław Szafrański, M. Lance Cooper, Mitchell Rao, Lina Shao, Sarah T. South, Karlene Coleman, Paul M. Fernhoff, Marcel J. Deray, Sally Rosengren, Elizabeth Roeder, Victoria B. Enciso, A. Craig Chinault, Ankita Patel, Sung-Hae L. Kang, Chad A. Shaw, James R. Lupski, Sau Wai Cheung

    出版 2011
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