Bilaketaren emaitzak - 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 nork 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

    Argitaratua 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 nork 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

    Argitaratua 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 nork 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

    Argitaratua 2011
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