Ngā hua rapu - 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 mā Ada Hamosh

    I whakaputaina 2004
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Ada Hamosh

    I whakaputaina 2002
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Joanna Amberger, Ada Hamosh

    I whakaputaina 2017
    Whiwhi kuputuhi katoa
    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 mā Danielle R. Azzariti, Ada Hamosh

    I whakaputaina 2020
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Nonsense mutations and diminished mRNA levels

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

    I whakaputaina 1993
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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)) mā Joanna Amberger, Carol Bocchini, Alan F. Scott, Ada Hamosh

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    OMIM.org: leveraging knowledge across phenotype–gene relationships

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

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Nara Sobreira, François Schiettecatte, Corinne D. Boehm, David Valle, Ada Hamosh

    I whakaputaina 2015
    Whiwhi kuputuhi katoa
    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 mā Joanna Amberger, Carol Bocchini, François Schiettecatte, Alan F. Scott, Ada Hamosh

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    I whakaputaina 2022
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Hydroxocobalamin dose escalation improves metabolic control in cblC

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

    I whakaputaina 2009
    Whiwhi kuputuhi katoa
    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 mā Ada Hamosh, Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen

    I whakaputaina 2021
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Online Mendelian Inheritance In Man (OMIM)

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

    I whakaputaina 2000
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Ada Hamosh, Joseph F. Maher, Gary A. Bellus, Sonja A. Rasmussen, Michael V. Johnston

    I whakaputaina 1998
    Whiwhi kuputuhi katoa
    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 mā Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

    I whakaputaina 1992
    Whiwhi kuputuhi katoa
    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... mā Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen N. Lamb, Ada Hamosh, Kathleen W. Rao

    I whakaputaina 2011
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Gregory M. Enns, Susan A. Berry, Gerard T. Berry, William J. Rhead, Saul W. Brusilow, Ada Hamosh

    I whakaputaina 2007
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Ada Hamosh, Nara Sobreira, Julie Hoover‐Fong, V. Reid Sutton, Corinne D. Boehm, François Schiettecatte, David Valle

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    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 mā Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, Joanna Amberger, Carol Bocchini, Ada Hamosh, Julian Veldboer, Tomasz Żemojtel, Peter N. Robinson

    I whakaputaina 2014
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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