檢索結果 - Andrew D. Phillips

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  1. 1
    The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

    The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine 由 Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper

    出版 2013
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  2. 2
    The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics

    The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalised genomics 由 Peter D. Stenson, Edward V. Ball, Katy Howells, Andrew D. Phillips, Matthew Mort, D.N. Cooper

    出版 2009
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    Editorial
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  3. 3
    The Human Gene Mutation Database: 2008 update

    The Human Gene Mutation Database: 2008 update 由 Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Howells, Andrew D. Phillips, Nick Thomas, D.N. Cooper

    出版 2009
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    Artigo
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    The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

    The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies 由 Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper

    出版 2017
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  5. 5
    Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

    Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics 由 D.N. Cooper, Jian‐Min Chen, Edward V. Ball, Katy Howells, Matthew Mort, Andrew D. Phillips, Nadia Chuzhanova, Michael Krawczak, Hildegard Kehrer‐Sawatzki, Peter D. Stenson

    出版 2010
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    The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

    The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting 由 Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luı́sa Azevedo, Matthew Hayden, Sally Heywood, David Millar, Andrew D. Phillips, D.N. Cooper

    出版 2020
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  7. 7
    Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

    Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing 由 Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V. Ball, Matthew Mort, Andrew D. Phillips, Katy Shaw, Peter D. Stenson, D.N. Cooper, Chris Tyler‐Smith

    出版 2012
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    Artigo
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