Hasil Pencarian - Nicole Boczek

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  1. 1
    P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing

    P726: Genome sequencing (GS) in deceased neonate revealed loss-of-function MECOM variant highlighting clinical utility of GS as first-tier testing oleh Sarah Barnett, Laura Rust, Alanna Cera, Lidija Gorsic, Nicole Boczek

    Diterbitkan 2024-01-01
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  2. 2
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing oleh Christina A. Austin-Tse, Vaidehi Jobanputra, Denise L. Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Ted Young, Sarah Barnett, John W. Belmont, Nicole Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas-Wilson, Hutton M. Kearney, Heidi L. Rehm, Medical Genome Initiative*

    Diterbitkan 2022-04-01
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