Resultats de la cerca - Peter N. Robinson

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  1. 1
    Deep phenotyping for precision medicine

    Deep phenotyping for precision medicine per Peter N. Robinson

    Publicat 2012
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  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 per Peter N. Robinson

    Publicat 2010
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  3. 3
    The molecular genetics of Marfan syndrome and related microfibrillopathies

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

    Publicat 2000
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  4. 4
    Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

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

    Publicat 2015
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  5. 5
    Phenotype Ontologies and Cross-Species Analysis for Translational Research

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

    Publicat 2014
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  6. 6
    The Human Phenotype Ontology

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

    Publicat 2010
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  7. 7
    Marfan syndrome: an update of genetics, medical and surgical management

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

    Publicat 2007
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  8. 8
    Novel ocular antihypertensive compounds in clinical trials

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

    Publicat 2011
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  9. 9
    GOing Bayesian: model-based gene set analysis of genome-scale data

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

    Publicat 2010
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  10. 10
    Model-based gene set analysis for Bioconductor

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

    Publicat 2011
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  11. 11
    Capturing phenotypes for precision medicine

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

    Publicat 2015
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  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 per Robin Steinhaus, Peter N. Robinson, Dominik Seelow

    Publicat 2022
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  13. 13
    Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

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

    Publicat 2015
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  14. 14
    Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy

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

    Publicat 2016
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  15. 15
    Classification, Ontology, and Precision Medicine

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

    Publicat 2018
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  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 per Daniel Horbelt, Gao Guo, Peter N. Robinson, Petra Knaus

    Publicat 2010
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  17. 17
    Walking the Interactome for Prioritization of Candidate Disease Genes

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

    Publicat 2008
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  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 per Steffen Großmann, Sebastian Bauer, Peter N. Robinson, Martin Vingron

    Publicat 2007
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  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 per Max Schubach, Matteo Ré, Peter N. Robinson, Giorgio Valentini

    Publicat 2017
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  20. 20
    Ontologizing gene-expression microarray data: characterizing clusters with Gene Ontology

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

    Publicat 2004
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