Arama Sonuçları - Damian Smedley

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  1. 1
    The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP

    The t(8;13)(p11;q11-12) rearrangement associated with an atypical myeloproliferative disorder fuses the fibroblast growth factor receptor 1 gene to a novel gene RAMP Yazar: Damian Smedley

    Baskı/Yayın Bilgisi 1998
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  2. 2
    Phenotype-driven strategies for exome prioritization of human Mendelian disease genes

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

    Baskı/Yayın Bilgisi 2015
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  3. 3
    New models for human disease from the International Mouse Phenotyping Consortium

    New models for human disease from the International Mouse Phenotyping Consortium Yazar: Pilar Cacheiro, Melissa Haendel, Damian Smedley

    Baskı/Yayın Bilgisi 2019
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  4. 4
    Beyond knockouts: cre resources for conditional mutagenesis

    Beyond knockouts: cre resources for conditional mutagenesis Yazar: Stephen A. Murray, Janan T. Eppig, Damian Smedley, Elizabeth M. Simpson, Nadia Rosenthal

    Baskı/Yayın Bilgisi 2012
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  5. 5
    BioMart Central Portal—unified access to biological data

    BioMart Central Portal—unified access to biological data Yazar: Syed Haider, Benoît Ballester, Damian Smedley, Junjun Zhang, Peter Rice, Arek Kasprzyk

    Baskı/Yayın Bilgisi 2009
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  6. 6
    Jannovar: A Java Library for Exome Annotation

    Jannovar: A Java Library for Exome Annotation Yazar: Marten Jäger, Kai Wang, Sebastian Bauer, Damian Smedley, Peter Krawitz, Peter N. Robinson

    Baskı/Yayın Bilgisi 2014
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  7. 7
    BioMart – biological queries made easy

    BioMart – biological queries made easy Yazar: Damian Smedley, Syed Haider, Benoît Ballester, Richard Holland, Darin London, Guðmundur Á. Þórisson, Arek Kasprzyk

    Baskı/Yayın Bilgisi 2009
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  8. 8
    High-throughput mouse phenomics for characterizing mammalian gene function

    High-throughput mouse phenomics for characterizing mammalian gene function Yazar: Steve D. M. Brown, Chris Holmes, Ann‐Marie Mallon, Terrence F. Meehan, Damian Smedley, Sara Wells

    Baskı/Yayın Bilgisi 2018
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  9. 9
    PhenoDigm: analyzing curated annotations to associate animal models with human diseases

    PhenoDigm: analyzing curated annotations to associate animal models with human diseases Yazar: Damian Smedley, Anika Oellrich, Sebastian Köhler, Barbara J. Ruef, Monte Westerfield, Peter N. Robinson, S. Lewis, Chris Mungall

    Baskı/Yayın Bilgisi 2013
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  10. 10
    Pharmacogenetics and adverse drug reports: Insights from a United Kingdom national pharmacovigilance database

    Pharmacogenetics and adverse drug reports: Insights from a United Kingdom national pharmacovigilance database Yazar: Emma Magavern, Maia Megase, Jack Thompson, Gabriel Marengo, Julius O.B. Jacobsen, Damian Smedley, Mark J. Caulfield

    Baskı/Yayın Bilgisi 2025
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  11. 11
    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 Yazar: Damian Smedley, Sebastian Köhler, Johanna Christina Czeschik, Joanna Amberger, Carol Bocchini, Ada Hamosh, Julian Veldboer, Tomasz Żemojtel, Peter N. Robinson

    Baskı/Yayın Bilgisi 2014
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  12. 12
    EnsMart: A Generic System for Fast and Flexible Access to Biological Data

    EnsMart: A Generic System for Fast and Flexible Access to Biological Data Yazar: Arek Kasprzyk, Damian Keefe, Damian Smedley, Darin London, William Spooner, Craig Melsopp, M. Hammond, Philippe Rocca‐Serra, Tony Cox, Ewan Birney

    Baskı/Yayın Bilgisi 2004
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  13. 13
    CYP2C19 Genotype Prevalence and Association With Recurrent Myocardial Infarction in British–South Asians Treated With Clopidogrel

    CYP2C19 Genotype Prevalence and Association With Recurrent Myocardial Infarction in British–South Asians Treated With Clopidogrel Yazar: Emma Magavern, Benjamin Meir Jacobs, Helen R. Warren, Gherardo Finocchiaro, Sarah Finer, David A. van Heel, Damian Smedley, Mark J. Caulfield

    Baskı/Yayın Bilgisi 2023
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  14. 14
    Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma

    Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma Yazar: Jeremy Clark, Yong‐Jie Lu, Sanjiv Sidhar, Chris Parker, Sandra Gill, Damian Smedley, Rifat Hamoudi, W. Marston Linehan, Janet Shipley, Colin S. Cooper

    Baskı/Yayın Bilgisi 1997
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  15. 15
    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora

    Automatic concept recognition using the Human Phenotype Ontology reference and test suite corpora Yazar: Tudor Groza, Sebastian Köhler, Sandra C. Doelken, Nigel Collier, Anika Oellrich, Damian Smedley, Francisco M. Couto, Gareth Baynam, Andreas Zankl, Peter N. Robinson

    Baskı/Yayın Bilgisi 2015
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  16. 16
    Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease

    Phenotype‐driven approaches to enhance variant prioritization and diagnosis of rare disease Yazar: Julius O.B. Jacobsen, Catherine Kelly, Valentina Cipriani, Genomics England Research Consortium, Chris Mungall, Justin Reese, Daniel Daniš, Peter N. Robinson, Damian Smedley

    Baskı/Yayın Bilgisi 2022
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  17. 17
    Interpretable prioritization of splice variants in diagnostic next-generation sequencing

    Interpretable prioritization of splice variants in diagnostic next-generation sequencing Yazar: Daniel Daniš, Julius O.B. Jacobsen, Leigh Carmody, Michael Gargano, Julie A. McMurry, Ayushi Hegde, Melissa Haendel, Giorgio Valentini, Damian Smedley, Peter N. Robinson

    Baskı/Yayın Bilgisi 2021
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  18. 18
    Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery

    Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery Yazar: Chris Mungall, Nicole L. Washington, Jeremy Nguyen-Xuan, Christopher Condit, Damian Smedley, Sebastian Köhler, Tudor Groza, Kent Shefchek, Harry Hochheiser, Peter N. Robinson, Suzanna Lewis, Melissa Haendel

    Baskı/Yayın Bilgisi 2015
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  19. 19
    eVOC: A Controlled Vocabulary for Unifying Gene Expression Data

    eVOC: A Controlled Vocabulary for Unifying Gene Expression Data Yazar: Janet Kelso, Johann Visagie, Grégory Theiler, Alan Christoffels, Soraya Bardien, Damian Smedley, Darren Otgaar, Gary Greyling, C. Victor Jongeneel, Mark I. McCarthy, Tania Hide, Yoshihide Hayashizaki

    Baskı/Yayın Bilgisi 2003
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  20. 20
    Ensembl variation resources

    Ensembl variation resources Yazar: Yuan Chen, Fiona Cunningham, Daniel Ríos, William McLaren, James Smith, Bethan Pritchard, Giulietta Spudich, Simon Brent, Eugene Kulesha, Pablo Marín-García, Damian Smedley, Ewan Birney, Paul Flicek

    Baskı/Yayın Bilgisi 2010
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