Αποτελέσματα αναζήτησης - Richard Redon
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Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome από Richard Redon, Geneviève Baujat, Damien Sanlaville, Martine Le Merrer, Michel Vekemans, Arnold Münnich, Nigel P. Carter, Valérie Cormier‐Daire, Laurence Colleaux
Έκδοση 2006Artigo -
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Genomic and Expression Profiling of Chromosome 17 in Breast Cancer Reveals Complex Patterns of Alterations and Novel Candidate Genes από Béatrice Orsetti, Mélanie Nugoli, Nathalie Cervera, Laurence Lasorsa, Paul Chuchana, Lisa Ursule, Catherine Nguyen, Richard Redon, Stanislas du Manoir, Carmen Rodrı́guez, Charles Theillet
Έκδοση 2004Artigo -
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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... από Jeanne Amiel, Marlène Rio, Loïc de Pontual, Richard Redon, Valérie Malan, Nathalie Boddaert, Perrine Plouin, Nigel P. Carter, Stanislas Lyonnet, Arnold Münnich, Laurence Colleaux
Έκδοση 2007Artigo -
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Screening for Copy Number Variation in Genes Associated With the Long QT Syndrome από 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
Έκδοση 2010Artigo -
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Breaking the waves: improved detection of copy number variation from microarray-based comparative genomic hybridization από 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
Έκδοση 2007Artigo -
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Advanced Characterization of DNA Molecules in rAAV Vector Preparations by Single-stranded Virus Next-generation Sequencing από 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
Έκδοση 2015Artigo -
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Identification of Large Families in Early Repolarization Syndrome από 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
Έκδοση 2013Artigo -
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Copy number variation: New insights in genome diversity από 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
Έκδοση 2006Revisão -
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Diet and the evolution of human amylase gene copy number variation από 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
Έκδοση 2007Artigo -
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Copy number variation and evolution in humans and chimpanzees από 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
Έκδοση 2008Artigo -
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Relative Impact of Nucleotide and Copy Number Variation on Gene Expression Phenotypes από 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
Έκδοση 2007Artigo -
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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders από 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
Έκδοση 2006Artigo -
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PDZ Domain–Binding Motif Regulates Cardiomyocyte Compartment-Specific Na <sub>V</sub> 1.5 Channel Expression and Function από 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
Έκδοση 2014Artigo -
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Sodium-channel blocker challenge in the familial screening of Brugada syndrome: Safety and predictors of positivity από 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
Έκδοση 2017Artigo -
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Genome assembly comparison identifies structural variants in the human genome από 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
Έκδοση 2006Artigo -
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Targeted resequencing identifies TRPM4 as a major gene predisposing to progressive familial heart block type I από 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
Έκδοση 2016Artigo -
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Independent and population-specific association of risk variants at the IRGM locus with Crohn's disease από 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
Έκδοση 2010Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Gene
Genetics
Medicine
Internal medicine
Genotype
Single-nucleotide polymorphism
Genome
Mutation
Computational biology
Copy-number variation
Phenotype
Exome sequencing
Genome-wide association study
Disease
Brugada syndrome
Comparative genomic hybridization
Gene expression
Neuroscience
Allele
Candidate gene
Exome
Genetic association
Human genome
Structural variation
Astrophysics
Bioinformatics
Missense mutation
Physics
Variation (astronomy)