Rezultati - Ada Hamosh

Refine Results
  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 od Ada Hamosh

    Izdano 2004
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Ada Hamosh

    Izdano 2002
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Joanna Amberger, Ada Hamosh

    Izdano 2017
    Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  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 od Danielle R. Azzariti, Ada Hamosh

    Izdano 2020
    Polni tekst Polni tekst
    Revisão
    Dodaj v priljubljene
    Shranjeno v:
  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 od Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh

    Izdano 2015
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  6. 6
    Nonsense mutations and diminished mRNA levels

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

    Izdano 1993
    Polni tekst Polni tekst
    Carta
    Dodaj v priljubljene
    Shranjeno v:
  7. 7
    McKusick's Online Mendelian Inheritance in Man (OMIM(R))

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

    Izdano 2008
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  8. 8
    OMIM.org: leveraging knowledge across phenotype–gene relationships

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

    Izdano 2018
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Nara Sobreira, François Schiettecatte, Corinne D. Boehm, David Valle, Ada Hamosh

    Izdano 2015
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Joanna Amberger, Carol Bocchini, François Schiettecatte, Alan F. Scott, Ada Hamosh

    Izdano 2014
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Kym M. Boycott, Danielle R. Azzariti, Ada Hamosh, Heidi L. Rehm

    Izdano 2022
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  12. 12
    Hydroxocobalamin dose escalation improves metabolic control in cblC

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

    Izdano 2009
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Ada Hamosh, Joanna Amberger, Carol Bocchini, Alan F. Scott, Sonja A. Rasmussen

    Izdano 2021
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  14. 14
    Online Mendelian Inheritance In Man (OMIM)

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

    Izdano 2000
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Ada Hamosh, Joseph F. Maher, Gary A. Bellus, Sonja A. Rasmussen, Michael V. Johnston

    Izdano 1998
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Ada Hamosh, John W. McDonald, David Valle, Clair A. Francomano, Ernst Niedermeyer, Michael V. Johnston

    Izdano 1992
    Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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... od Hutton M. Kearney, Sarah T. South, Daynna J. Wolff, Allen N. Lamb, Ada Hamosh, Kathleen W. Rao

    Izdano 2011
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  18. 18
    Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

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

    Izdano 2007
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Ada Hamosh, Nara Sobreira, Julie Hoover‐Fong, V. Reid Sutton, Corinne D. Boehm, François Schiettecatte, David Valle

    Izdano 2013
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:
  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 od Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, Joanna Amberger, Carol Bocchini, Ada Hamosh, Julian Veldboer, Tomasz Żemojtel, Peter N. Robinson

    Izdano 2014
    Polni tekst Polni tekst
    Artigo
    Dodaj v priljubljene
    Shranjeno v:

Iskalna orodja: