Canlyniadau Chwilio - Ada Hamosh

Mireinio'r Canlyniadau
  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 gan Ada Hamosh

    Cyhoeddwyd 2004
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Ada Hamosh

    Cyhoeddwyd 2002
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Joanna Amberger, Ada Hamosh

    Cyhoeddwyd 2017
    Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Danielle R. Azzariti, Ada Hamosh

    Cyhoeddwyd 2020
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh

    Cyhoeddwyd 2015
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  6. 6
    Nonsense mutations and diminished mRNA levels

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

    Cyhoeddwyd 1993
    Cael y testun llawn Cael y testun llawn
    Carta
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  7. 7
    McKusick's Online Mendelian Inheritance in Man (OMIM(R))

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

    Cyhoeddwyd 2008
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  8. 8
    OMIM.org: leveraging knowledge across phenotype–gene relationships

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

    Cyhoeddwyd 2018
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Nara Sobreira, François Schiettecatte, Corinne D. Boehm, David Valle, Ada Hamosh

    Cyhoeddwyd 2015
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Joanna Amberger, Carol Bocchini, François Schiettecatte, Alan F. Scott, Ada Hamosh

    Cyhoeddwyd 2014
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    Cyhoeddwyd 2022
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  12. 12
    Hydroxocobalamin dose escalation improves metabolic control in cblC

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

    Cyhoeddwyd 2009
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Ada Hamosh, Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen

    Cyhoeddwyd 2021
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  14. 14
    Online Mendelian Inheritance In Man (OMIM)

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

    Cyhoeddwyd 2000
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Ada Hamosh, Joseph F. Maher, Gary A. Bellus, Sonja A. Rasmussen, Michael V. Johnston

    Cyhoeddwyd 1998
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

    Cyhoeddwyd 1992
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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... gan Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen N. Lamb, Ada Hamosh, Kathleen W. Rao

    Cyhoeddwyd 2011
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  18. 18
    Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

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

    Cyhoeddwyd 2007
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Ada Hamosh, Nara Sobreira, Julie Hoover‐Fong, V. Reid Sutton, Corinne D. Boehm, François Schiettecatte, David Valle

    Cyhoeddwyd 2013
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  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 gan Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, Joanna Amberger, Carol Bocchini, Ada Hamosh, Julian Veldboer, Tomasz Żemojtel, Peter N. Robinson

    Cyhoeddwyd 2014
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:

Offerynnau Chwilio: