Search Results - 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 by Dawn A. Laney, Paul M. Fernhoff

    Published 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 by 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

    Published 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 by 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

    Published 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 by 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

    Published 2011
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