Zoekresultaten - D H Ledbetter

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  1. 1
    Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts

    Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts door Daniel Moreno‐De‐Luca, Stephan Sanders, A. Jeremy Willsey, Jennifer G. Mullé, Jennifer K. Lowe, Daniel H. Geschwind, Matthew W. State, Alastair J. Martin, D H Ledbetter

    Gepubliceerd in 2012
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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 door 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

    Gepubliceerd in 2010
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  3. 3
    Towards an evidence‐based process for the clinical interpretation of copy number variation

    Towards an evidence‐based process for the clinical interpretation of copy number variation door ER Riggs, DM Church, Karen Hanson, VL Horner, E B Kaminsky, RM Kuhn, KE Wain, E. H. Williams, Swaroop Aradhya, HM Kearney, D H Ledbetter, ST South, EC Thorland, CL Martin

    Gepubliceerd in 2011
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