検索結果 - Ada Hamosh

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  1. 1
    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders 著者: Ada Hamosh

    出版事項 2004
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    Artigo
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  2. 2
    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

    Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders 著者: Ada Hamosh

    出版事項 2002
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    Artigo
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  3. 3
    Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes

    Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes 著者: Joanna Amberger, Ada Hamosh

    出版事項 2017
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    Revisão
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  4. 4
    Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

    Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange 著者: Danielle R. Azzariti, Ada Hamosh

    出版事項 2020
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    Revisão
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  5. 5
    GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

    GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene 著者: Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh

    出版事項 2015
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    Artigo
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  6. 6
    Nonsense mutations and diminished mRNA levels

    Nonsense mutations and diminished mRNA levels 著者: Iain McIntosh, Ada Hamosh, Harry C. Dietz

    出版事項 1993
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    Carta
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  7. 7
    McKusick's Online Mendelian Inheritance in Man (OMIM(R))

    McKusick's Online Mendelian Inheritance in Man (OMIM(R)) 著者: Joanna Amberger, Carol Bocchini, Alan F. Scott, Ada Hamosh

    出版事項 2008
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    Artigo
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  8. 8
    OMIM.org: leveraging knowledge across phenotype–gene relationships

    OMIM.org: leveraging knowledge across phenotype–gene relationships 著者: Joanna Amberger, Carol Bocchini, Alan F. Scott, Ada Hamosh

    出版事項 2018
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    Artigo
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  9. 9
    New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

    New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene 著者: Nara Sobreira, François Schiettecatte, Corinne D. Boehm, David Valle, Ada Hamosh

    出版事項 2015
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    Artigo
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  10. 10
    OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

    OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders 著者: Joanna Amberger, Carol Bocchini, François Schiettecatte, Alan F. Scott, Ada Hamosh

    出版事項 2014
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    Artigo
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  11. 11
    Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking

    Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmaking 著者: Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    出版事項 2022
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    Artigo
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  12. 12
    Hydroxocobalamin dose escalation improves metabolic control in cblC

    Hydroxocobalamin dose escalation improves metabolic control in cblC 著者: Nuria Carrillo, Jennifer L. Sloan, David Valle, Ada Hamosh, Charles P. Venditti

    出版事項 2009
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    Artigo
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  13. 13
    Online Mendelian Inheritance in Man (<scp>OMIM</scp>®): Victor <scp>McKusick</scp>'s magnum opus

    Online Mendelian Inheritance in Man (<scp>OMIM</scp>®): Victor <scp>McKusick</scp>'s magnum opus 著者: Ada Hamosh, Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen

    出版事項 2021
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    Artigo
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  14. 14
    Online Mendelian Inheritance In Man (OMIM)

    Online Mendelian Inheritance In Man (OMIM) 著者: Ada Hamosh, Alan L. Scott, Joanna Amberger, David Valle‐García, Victor A. McKusick

    出版事項 2000
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    Artigo
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  15. 15
    Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia

    Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia 著者: Ada Hamosh, Joseph F. Maher, Gary A. Bellus, Sonja A. Rasmussen, Michael V. Johnston

    出版事項 1998
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    Artigo
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  16. 16
    Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant

    Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant 著者: Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

    出版事項 1992
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    Artigo
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  17. 17
    American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

    American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal sett... 著者: Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen N. Lamb, Ada Hamosh, Kathleen W. Rao

    出版事項 2011
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    Artigo
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  18. 18
    Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

    Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders 著者: Gregory M. Enns, Susan A. Berry, Gerard T. Berry, William J. Rhead, Saul W. Brusilow, Ada Hamosh

    出版事項 2007
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    Artigo
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  19. 19
    <scp>P</scp> heno <scp>DB</scp> : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features

    <scp>P</scp> heno <scp>DB</scp> : A New Web‐Based Tool for the Collection, Storage, and Analysis of Phenotypic Features 著者: Ada Hamosh, Nara Sobreira, Julie Hoover‐Fong, V. Reid Sutton, Corinne D. Boehm, François Schiettecatte, David Valle

    出版事項 2013
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    Artigo
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  20. 20
    Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

    Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases 著者: Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, Joanna Amberger, Carol Bocchini, Ada Hamosh, Julian Veldboer, Tomasz Żemojtel, Peter N. Robinson

    出版事項 2014
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    Artigo
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