Hasil Pencarian - Matthew Wakeling

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  1. 1
    ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series [version 2; referees: 2 approved]

    ICR142 Benchmarker: evaluating, optimising and benchmarking variant calling performance using the ICR142 NGS validation series [version 2; referees: 2 approved] oleh Elise Ruark, Esty Holt, Anthony Renwick, Márton Münz, Matthew Wakeling, Sian Ellard, Shazia Mahamdallie, Shawn Yost, Nazneen Rahman

    Diterbitkan 2018-10-01
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  2. 2
    Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood

    Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood oleh Courtney E. French, Helen Dolling, Karyn Mégy, Alba Sanchis-Juan, Ajay Kumar, Isabelle Delon, Matthew Wakeling, Lucy Mallin, Shruti Agrawal, Topun Austin, Florence Walston, Soo-Mi Park, Alasdair Parker, Chinthika Piyasena, Kimberley Bradbury, Sian Ellard, David H. Rowitch, F. Lucy Raymond

    Diterbitkan 2022-07-01
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  3. 3
    Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

    Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome oleh Emma Wakeling, Meriel McEntagart, Michael Bruccoleri, Charles Shaw-Smith, Karen L. Stals, Matthew Wakeling, Angela Barnicoat, Clare Beesley, Andrea K. Hanson-Kahn, Mary Kukolich, David A. Stevenson, Philippe M. Campeau, Sian Ellard, Sarah H. Elsea, Xiang-Jiao Yang, Richard C. Caswell

    Diterbitkan 2021-01-01
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