Hasil Pencarian - Mort Matthew

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  1. 1
    Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides

    Methylation-mediated deamination of 5-methylcytosine appears to give rise to mutations causing human inherited disease in CpNpG trinucleotides, as well as in CpG dinucleotides oleh Cooper David N, Mort Matthew, Stenson Peter D, Ball Edward V, Chuzhanova Nadia A

    Diterbitkan 2010-08-01
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  2. 2
    Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations

    Cross-comparison of the genome sequences from human, chimpanzee, Neanderthal and a Denisovan hominin identifies novel potentially compensated mutations oleh Zhang Guojie, Pei Zhang, Ball Edward V, Mort Matthew, Kehrer-Sawatzki Hildegard, Cooper David N

    Diterbitkan 2011-07-01
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  3. 3
    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 oleh Stenson Peter D, Ball Edward V, Howells Katy, Phillips Andrew D, Mort Matthew, Cooper David N

    Diterbitkan 2009-12-01
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  4. 4
    Molecular Genetic Analysis of the <it>PLP1 </it>Gene in 38 Families with <it>PLP1</it>-related disorders: Identification and Functional Characterization of 11 Novel <it>PLP1 </it>Mutations

    Molecular Genetic Analysis of the <it>PLP1 </it>Gene in 38 Families with <it>PLP1</it>-related disorders: Identification and Functional Characterization of 11 Novel <it>PLP1 </it>M... oleh Marchiani Valentina, Demir Ercan, Corsolini Fabio, Simonati Alessandro, Boespflug-Tanguy Odile, Uziel Graziella, Bertini Enrico, Lualdi Susanna, Mort Matthew, Biancheri Roberta, Regis Stefano, Grossi Serena, Percesepe Antonio, Stanzial Franco, Rossi Andrea, Vaurs-Barrière Catherine, Cooper David N, Filocamo Mirella

    Diterbitkan 2011-06-01
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