Výsledky vyhledávání - 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 Autor Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Shaw, Andrew D. Phillips, D.N. Cooper

    Vydáno 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 Autor Peter D. Stenson, Edward V. Ball, Katy Howells, Andrew D. Phillips, Matthew Mort, D.N. Cooper

    Vydáno 2009
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  3. 3
    The Human Gene Mutation Database: 2008 update

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

    Vydáno 2009
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  4. 4
    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 Autor Peter D. Stenson, Matthew Mort, Edward V. Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D. Phillips, D.N. Cooper

    Vydáno 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 Autor 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

    Vydáno 2010
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  6. 6
    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 Autor 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

    Vydáno 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 Autor 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

    Vydáno 2012
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