Resultados de búsqueda - Paul N. Schofield

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  1. 1
    The role of ontologies in biological and biomedical research: a functional perspective

    The role of ontologies in biological and biomedical research: a functional perspective por Robert Hoehndorf, Paul N. Schofield, Georgios V. Gkoutos

    Publicado 2015
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  2. 2
    Mouse genetic and phenotypic resources for human genetics

    Mouse genetic and phenotypic resources for human genetics por Paul N. Schofield, Robert Hoehndorf, Georgios V. Gkoutos

    Publicado 2012
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  3. 3
    The Units Ontology: a tool for integrating units of measurement in science

    The Units Ontology: a tool for integrating units of measurement in science por Georgios V. Gkoutos, Paul N. Schofield, Robert Hoehndorf

    Publicado 2012
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  4. 4
    Pathbase and the MPATH Ontology

    Pathbase and the MPATH Ontology por Paul N. Schofield, Michael Gruenberger, John P. Sundberg

    Publicado 2010
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  5. 5
    PhenomeNET: a whole-phenome approach to disease gene discovery

    PhenomeNET: a whole-phenome approach to disease gene discovery por Robert Hoehndorf, Paul N. Schofield, Georgios V. Gkoutos

    Publicado 2011
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  6. 6
    Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases

    Analysis of the human diseasome using phenotype similarity between common, genetic and infectious diseases por Robert Hoehndorf, Paul N. Schofield, Georgios V. Gkoutos

    Publicado 2015
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  7. 7
    The anatomy of phenotype ontologies: principles, properties and applications

    The anatomy of phenotype ontologies: principles, properties and applications por Georgios V. Gkoutos, Paul N. Schofield, Robert Hoehndorf

    Publicado 2017
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  8. 8
    Aber-OWL: a framework for ontology-based data access in biology

    Aber-OWL: a framework for ontology-based data access in biology por Robert Hoehndorf, Luke T. Slater, Paul N. Schofield, Georgios V. Gkoutos

    Publicado 2015
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  9. 9
    DeepPVP: phenotype-based prioritization of causative variants using deep learning

    DeepPVP: phenotype-based prioritization of causative variants using deep learning por Imane Boudellioua, Maxat Kulmanov, Paul N. Schofield, Georgios V. Gkoutos, Robert Hoehndorf

    Publicado 2019
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  10. 10
    Abnormal skeletal and cardiac development, cardiomyopathy, muscle atrophy and cataracts in mice with a targeted disruption of the Nov (Ccn3) gene

    Abnormal skeletal and cardiac development, cardiomyopathy, muscle atrophy and cataracts in mice with a targeted disruption of the Nov (Ccn3) gene por Emma Heath, Dalal Tahri, Elisabetta Andermarcher, Paul N. Schofield, Stewart Fleming, Catherine A. Boulter

    Publicado 2008
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  11. 11
    Mouse model phenotypes provide information about human drug targets

    Mouse model phenotypes provide information about human drug targets por Robert Hoehndorf, Tanya Hiebert, Nigel Hardy, Paul N. Schofield, Georgios V. Gkoutos, Michel Dumontier

    Publicado 2013
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  12. 12
    Mosaic uniparental disomy in Beckwith-Wiedemann syndrome.

    Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. por Rosalind Slatter, Margaret Elliott, K Welham, M. Carrera, Paul N. Schofield, David Barton, E.R. Maher

    Publicado 1994
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  13. 13
    Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

    Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. por Daniel Catchpoole, Wayne Lam, D Valler, I. Karen Temple, Johanna A. Joyce, Wolf Reik, Paul N. Schofield, E.R. Maher

    Publicado 1997
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  14. 14
    Entity/quality-based logical definitions for the human skeletal phenome using PATO

    Entity/quality-based logical definitions for the human skeletal phenome using PATO por Georgios V. Gkoutos, Chris Mungall, Sandra Dölken, Michael Ashburner, S. Lewis, John M. Hancock, Paul N. Schofield, Sebastian Köhler, Peter N. Robinson

    Publicado 2009
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  15. 15
    Analysis of germline CDKN1C (p57<sup>KIP2</sup>) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

    Analysis of germline CDKN1C (p57<sup>KIP2</sup>) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation por Wayne Lam, Izuho Hatada, Sachiko Oh‐ishi, Tsunehiro Mukai, Johanna A. Joyce, Trevor Cole, Dian Donnai, Wolf Reik, Paul N. Schofield, Eamonn R. Maher

    Publicado 1999
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  16. 16
    The mouse as a model for understanding chronic diseases of aging: the histopathologic basis of aging in inbred mice

    The mouse as a model for understanding chronic diseases of aging: the histopathologic basis of aging in inbred mice por John P. Sundberg, Annerose Berndt, Beth A. Sundberg, Kathleen A. Silva, Victoria E. Kennedy, Roderick Bronson, Rong Yuan, Beverly Paigen, David E. Harrison, Paul N. Schofield

    Publicado 2011
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  17. 17
    Molecular and functional characterization of amylin, a peptide associated with type 2 diabetes mellitus.

    Molecular and functional characterization of amylin, a peptide associated with type 2 diabetes mellitus. por Anne N. Roberts, Brendan Leighton, John A. Todd, D.J. Cockburn, Paul N. Schofield, Rosemary Sutton, Scott M. Holt, Yvonne Boyd, Anthony J. Day, Elizabeth Foot

    Publicado 1989
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  18. 18
    Post-publication sharing of data and tools

    Post-publication sharing of data and tools por Paul N. Schofield, Tania Bubela, T. A. Weaver, Lili Portilla, Stephen D. Brown, John M. Hancock, David Einhorn, Glauco P. Tocchini‐Valentini, Martin Hrabě de Angelis, Nadia Rosenthal

    Publicado 2009
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  19. 19
    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research por Sebastian Köhler, Sandra C. Doelken, Barbara J. Ruef, Sebastian Bauer, Nicole L. Washington, Monte Westerfield, Georgios V. Gkoutos, Paul N. Schofield, Damian Smedley, Suzanna Lewis, Peter N. Robinson, Chris Mungall

    Publicado 2014
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  20. 20
    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research

    Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research por Sebastian Köhler, Sandra C. Doelken, Barbara J. Ruef, Sebastian Bauer, Nicole L. Washington, Monte Westerfield, Georgios V. Gkoutos, Paul N. Schofield, Damian Smedley, Suzanna Lewis, Peter N. Robinson, Chris Mungall

    Publicado 2013
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