Canlyniadau Chwilio - Peter N. Robinson

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  1. 1
    Deep phenotyping for precision medicine

    Deep phenotyping for precision medicine gan Peter N. Robinson

    Cyhoeddwyd 2012
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  2. 2
    Whole-exome sequencing for finding de novo mutations in sporadic mental retardation

    Whole-exome sequencing for finding de novo mutations in sporadic mental retardation gan Peter N. Robinson

    Cyhoeddwyd 2010
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  3. 3
    The molecular genetics of Marfan syndrome and related microfibrillopathies

    The molecular genetics of Marfan syndrome and related microfibrillopathies gan Peter N. Robinson

    Cyhoeddwyd 2000
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  4. 4
    Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

    Phenotype-driven strategies for exome prioritization of human Mendelian disease genes gan Damian Smedley, Peter N. Robinson

    Cyhoeddwyd 2015
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  5. 5
    Phenotype Ontologies and Cross-Species Analysis for Translational Research

    Phenotype Ontologies and Cross-Species Analysis for Translational Research gan Peter N. Robinson, Caleb Webber

    Cyhoeddwyd 2014
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  6. 6
    The Human Phenotype Ontology

    The Human Phenotype Ontology gan Peter N. Robinson, Stefan Mundlos

    Cyhoeddwyd 2010
    Cael y testun llawn
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    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  7. 7
    Marfan syndrome: an update of genetics, medical and surgical management

    Marfan syndrome: an update of genetics, medical and surgical management gan Y. von Kodolitsch, Peter N. Robinson

    Cyhoeddwyd 2007
    Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  8. 8
    Novel ocular antihypertensive compounds in clinical trials

    Novel ocular antihypertensive compounds in clinical trials gan June Chen, Runyan, Peter N. Robinson

    Cyhoeddwyd 2011
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  9. 9
    GOing Bayesian: model-based gene set analysis of genome-scale data

    GOing Bayesian: model-based gene set analysis of genome-scale data gan Sebastian Bauer, Julien Gagneur, Peter N. Robinson

    Cyhoeddwyd 2010
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  10. 10
    Model-based gene set analysis for Bioconductor

    Model-based gene set analysis for Bioconductor gan Sebastian Bauer, Peter N. Robinson, Julien Gagneur

    Cyhoeddwyd 2011
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  11. 11
    Capturing phenotypes for precision medicine

    Capturing phenotypes for precision medicine gan Peter N. Robinson, Chris Mungall, Melissa Haendel

    Cyhoeddwyd 2015
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  12. 12
    FABIAN-variant: predicting the effects of DNA variants on transcription factor binding

    FABIAN-variant: predicting the effects of DNA variants on transcription factor binding gan Robin Steinhaus, Peter N. Robinson, Dominik Seelow

    Cyhoeddwyd 2022
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  13. 13
    Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

    Phenolyzer: phenotype-based prioritization of candidate genes for human diseases gan Hui Yang, Peter N. Robinson, Kai Wang

    Cyhoeddwyd 2015
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  14. 14
    Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy

    Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy gan Eberhard Passarge, Peter N. Robinson, Luitgard Graul‐Neumann

    Cyhoeddwyd 2016
    Cael y testun llawn Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  15. 15
    Classification, Ontology, and Precision Medicine

    Classification, Ontology, and Precision Medicine gan Melissa Haendel, Christopher G. Chute, Peter N. Robinson

    Cyhoeddwyd 2018
    Cael y testun llawn
    Revisão
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  16. 16
    Quantitative analysis of <i>TGFBR2</i> mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity

    Quantitative analysis of <i>TGFBR2</i> mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity gan Daniel Horbelt, Gao Guo, Peter N. Robinson, Petra Knaus

    Cyhoeddwyd 2010
    Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  17. 17
    Walking the Interactome for Prioritization of Candidate Disease Genes

    Walking the Interactome for Prioritization of Candidate Disease Genes gan Sebastian Köhler, Sebastian Bauer, Denise Horn, Peter N. Robinson

    Cyhoeddwyd 2008
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  18. 18
    Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis

    Improved detection of overrepresentation of Gene-Ontology annotations with parent–child analysis gan Steffen Großmann, Sebastian Bauer, Peter N. Robinson, Martin Vingron

    Cyhoeddwyd 2007
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  19. 19
    Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants

    Imbalance-Aware Machine Learning for Predicting Rare and Common Disease-Associated Non-Coding Variants gan Max Schubach, Matteo Ré, Peter N. Robinson, Giorgio Valentini

    Cyhoeddwyd 2017
    Cael y testun llawn Cael y testun llawn
    Artigo
    Ychwanegu at ffefrynnau
    Wedi'i Gadw mewn:
  20. 20
    Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology

    Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology gan Peter N. Robinson, Andreas Wollstein, Ulrike Böhme, Bradley J. Beattie

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

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