Søgeresultater - 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 af Ada Hamosh

    Udgivet 2004
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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 af Ada Hamosh

    Udgivet 2002
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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 af Joanna Amberger, Ada Hamosh

    Udgivet 2017
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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 af Danielle R. Azzariti, Ada Hamosh

    Udgivet 2020
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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 af Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh

    Udgivet 2015
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  6. 6
    Nonsense mutations and diminished mRNA levels

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

    Udgivet 1993
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  7. 7
    McKusick's Online Mendelian Inheritance in Man (OMIM(R))

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

    Udgivet 2008
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  8. 8
    OMIM.org: leveraging knowledge across phenotype–gene relationships

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

    Udgivet 2018
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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 af Nara Sobreira, François Schiettecatte, Corinne D. Boehm, David Valle, Ada Hamosh

    Udgivet 2015
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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 af Joanna Amberger, Carol Bocchini, François Schiettecatte, Alan F. Scott, Ada Hamosh

    Udgivet 2014
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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 af Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    Udgivet 2022
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  12. 12
    Hydroxocobalamin dose escalation improves metabolic control in cblC

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

    Udgivet 2009
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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 af Ada Hamosh, Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen

    Udgivet 2021
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  14. 14
    Online Mendelian Inheritance In Man (OMIM)

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

    Udgivet 2000
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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 af Ada Hamosh, Joseph F. Maher, Gary A. Bellus, Sonja A. Rasmussen, Michael V. Johnston

    Udgivet 1998
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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 af Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

    Udgivet 1992
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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... af Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen N. Lamb, Ada Hamosh, Kathleen W. Rao

    Udgivet 2011
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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 af Gregory M. Enns, Susan A. Berry, Gerard T. Berry, William J. Rhead, Saul W. Brusilow, Ada Hamosh

    Udgivet 2007
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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 af Ada Hamosh, Nara Sobreira, Julie Hoover‐Fong, V. Reid Sutton, Corinne D. Boehm, François Schiettecatte, David Valle

    Udgivet 2013
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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 af Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, Joanna Amberger, Carol Bocchini, Ada Hamosh, Julian Veldboer, Tomasz Żemojtel, Peter N. Robinson

    Udgivet 2014
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