Canlyniadau Chwilio - Richard Redon

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  1. 1
    The Role of DNA Copy Number Variation in Schizophrenia

    The Role of DNA Copy Number Variation in Schizophrenia gan Gloria W.C. Tam, Richard Redon, Nigel P. Carter, Seth G. N. Grant

    Cyhoeddwyd 2009
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  2. 2
    A robust statistical method for case-control association testing with copy number variation

    A robust statistical method for case-control association testing with copy number variation gan C. Barnes, Vincent Plagnol, Tomas Fitzgerald, Richard Redon, Jonathan Marchini, David Clayton, Matthew E. Hurles

    Cyhoeddwyd 2008
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  3. 3
    The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance

    The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance gan Jean‐Baptiste Gourraud, Julien Barc, Aurélie Thollet, Solena Le Scouarnec, Hervé Le Marec, Jean‐Jacques Schott, Richard Redon, Vincent Probst

    Cyhoeddwyd 2016
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  4. 4
    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome

    Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome gan Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Münnich, Nigel P. Carter, Valérie Cormier‐Daire, Laurence Colleaux

    Cyhoeddwyd 2006
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  5. 5
    Genomic and Expression Profiling of Chromosome 17 in Breast Cancer Reveals Complex Patterns of Alterations and Novel Candidate Genes

    Genomic and Expression Profiling of Chromosome 17 in Breast Cancer Reveals Complex Patterns of Alterations and Novel Candidate Genes gan Béatrice Orsetti, Mélanie Nugoli, Nathalie Cervera, Laurence Lasorsa, Paul Chuchana, Lisa Ursule, Catherine Nguyen, Richard Redon, Stanislas du Manoir, Carmen Rodrı́guez, Charles Theillet

    Cyhoeddwyd 2004
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  6. 6
    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

    Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Auto... gan Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Münnich, Laurence Colleaux

    Cyhoeddwyd 2007
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  7. 7
    Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome

    Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome gan Julien Barc, François Briec, Sébastien Schmitt, Florence Kyndt, Martine Le Cunff, Estelle Baron, C Vieyres, Frédéric Sacher, Richard Redon, Cédric Le Caignec, Hervé Le Marec, Vincent Probst, Jean‐Jacques Schott

    Cyhoeddwyd 2010
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  8. 8
    Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization

    Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization gan John C. Marioni, Natalie Thorne, Armand Valsesia, Tomas Fitzgerald, Richard Redon, Heike Fiegler, T. Daniel Andrews, Barbara E. Stranger, Andy G. Lynch, Emmanouil T. Dermitzakis, Nigel P. Carter, Simon Tavaré, Matthew E. Hurles

    Cyhoeddwyd 2007
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  9. 9
    Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing

    Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing gan Émilie Lecomte, Benoît Tournaire, Benjamin Cogné, Jean‐Baptiste Dupont, Pierre Lindenbaum, Mélanie Martin-Fontaine, Frédéric Broucque, Cécile Robin, Matthias Hebben, Otto‐Wilhelm Merten, Véronique Blouin, Achille François, Richard Redon, Philippe Moullier, Adrien Léger

    Cyhoeddwyd 2015
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  10. 10
    Identification of Large Families in Early Repolarization Syndrome

    Identification of Large Families in Early Repolarization Syndrome gan Jean‐Baptiste Gourraud, Solena Le Scouarnec, Frédéric Sacher, Stéphanie Chatel, Nicolas Derval, Vincent Portero, Pascal Chavernac, Juan E. Sandoval, Philippe Mabo, Richard Redon, Jean‐Jacques Schott, Hervé Le Marec, Michel Haı̈ssaguerre, Vincent Probst

    Cyhoeddwyd 2013
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  11. 11
    Copy number variation: New insights in genome diversity

    Copy number variation: New insights in genome diversity gan Jennifer L. Freeman, George H. Perry, Lars Feuk, Richard Redon, Steven A. McCarroll, David Altshuler, Hiroyuki Aburatani, Keith Jones, Chris Tyler‐Smith, Matthew E. Hurles, Nigel P. Carter, Stephen W. Scherer, Charles Lee

    Cyhoeddwyd 2006
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  12. 12
    Diet and the evolution of human amylase gene copy number variation

    Diet and the evolution of human amylase gene copy number variation gan George H. Perry, Nathaniel J. Dominy, Katrina G. Claw, Arthur S. Lee, Heike Fiegler, Richard Redon, John C. Werner, Fernando A. Villanea, Joanna L. Mountain, Rajeev Misra, Nigel P. Carter, Charles Lee, Anne C. Stone

    Cyhoeddwyd 2007
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  13. 13
    Copy number variation and evolution in humans and chimpanzees

    Copy number variation and evolution in humans and chimpanzees gan George H. Perry, Fengtang Yang, Tomàs Marquès‐Bonet, Carly Murphy, Tomas Fitzgerald, Arthur S. Lee, Courtney Hyland, Anne C. Stone, Matthew E. Hurles, Chris Tyler‐Smith, Evan E. Eichler, Nigel P. Carter, Charles Lee, Richard Redon

    Cyhoeddwyd 2008
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  14. 14
    Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes

    Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes gan Barbara E. Stranger, Matthew S. Forrest, Mark Dunning, Catherine Ingle, Claude Beazley, Natalie Thorne, Richard Redon, Christine Bird, Anna Grassi, Charles Lee, Chris Tyler‐Smith, Nigel Carter, Stephen W. Scherer, Simon Tavaré, Panos Deloukas, Matthew E. Hurles, Emmanouil T. Dermitzakis

    Cyhoeddwyd 2007
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  15. 15
    Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

    Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders gan M-L Jacquemont, Damien Sanlaville, Richard Redon, O Raoul, Valérie Cormier‐Daire, Stanislas Lyonnet, Jeanne Amiel, M Le Merrer, D. Héron, M‐C De Blois, M Prieur, Michel Vekemans, N P Carter, A Munnich, Laurence Colleaux, Anne Philippe

    Cyhoeddwyd 2006
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  16. 16
    PDZ Domain–Binding Motif Regulates Cardiomyocyte Compartment-Specific Na <sub>V</sub> 1.5 Channel Expression and Function

    PDZ Domain–Binding Motif Regulates Cardiomyocyte Compartment-Specific Na <sub>V</sub> 1.5 Channel Expression and Function gan Diana Shy, Ludovic Gillet, Jakob Ogrodnik, Maxime Albesa, Arie O. Verkerk, Rianne Wolswinkel, Jean‐Sébastien Rougier, Julien Barc, Maria C. Essers, Ninda Syam, Roos F. Marsman, Anneke M. van Mil, Samuel Rotman, Richard Redon, Connie R. Bezzina, Carol Ann Remme, Hugues Abriel

    Cyhoeddwyd 2014
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  17. 17
    Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity

    Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity gan Dylan Therasse, Frédéric Sacher, Bertrand Petit, Dominique Babuty, Philippe Mabo, Raphaël P. Martins, Laurence Jesel, Philippe Maury, Jean‐Luc Pasquié, Jacques Mansourati, J. Dupuis, Florence Kyndt, Aurélie Thollet, Béatrice Guyomarch, Julien Barc, Jean‐Jacques Schott, Hervé Le Marec, Richard Redon, Vincent Probst, Jean‐Baptiste Gourraud

    Cyhoeddwyd 2017
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  18. 18
    Genome assembly comparison identifies structural variants in the human genome

    Genome assembly comparison identifies structural variants in the human genome gan Razi Khaja, Junjun Zhang, Jeffrey R. MacDonald, Yongshu He, Ann M. Joseph‐George, John Wei, Muhammad Rafiq, Qian Cheng, Mary Shago, Lorena Pantano, Hiroyuki Aburatani, Keith Jones, Richard Redon, Matthew E. Hurles, Lluı́s Armengol, Xavier Estivill, Richard Mural, Charles Lee, Stephen W. Scherer, Lars Feuk

    Cyhoeddwyd 2006
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  19. 19
    Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I

    Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I gan Xavier Daumy, Mohamed‐Yassine Amarouch, Pierre Lindenbaum, Stéphanie Bonnaud, Éric Charpentier, Beatrice Bianchi, Sabine Nafzger, Estelle Baron, Swanny Fouchard, Aurélie Thollet, Florence Kyndt, Julien Barc, Solena Le Scouarnec, Naomasa Makita, Hervé Le Marec, Christian Dina, Jean‐Baptiste Gourraud, Vincent Probst, Hugues Abriel, Richard Redon, Jean‐Jacques Schott

    Cyhoeddwyd 2016
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  20. 20
    Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease

    Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease gan Natalie J. Prescott, Kathy Dominy, Michiaki Kubo, Cathryn M. Lewis, Sheila Fisher, Richard Redon, Ni Huang, Barbara E. Stranger, Katarzyna Błaszczyk, Barry Hudspith, Gareth Parkes, Naoya Hosono, Keiko Yamazaki, Clive M. Onnie, Alastair Forbes, Emmanouil T. Dermitzakis, Yusuke Nakamura, John Mansfield, Jeremy Sanderson, Matthew E. Hurles, Roland G. Roberts, Christopher G. Mathew

    Cyhoeddwyd 2010
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