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1.
6 p, 595.1 KB The Deep Genome Project / Lloyd, K. C. Kent (University of California. Department of Surgery) ; Adams, David J. (Wellcome Trust Sanger Institute (Regne Unit)) ; Baynam, Gareth (Curtin University. Faculty of Science and Engineering) ; Beaudet, Arthur L. (Baylor College of Medicine. Department of Molecular and Human Genetics) ; Bosch i Tubert, Fàtima (Universitat Autònoma de Barcelona. Centre de Biotecnologia Animal i de Teràpia Gènica (CBATEG)) ; Boycott, Kym M. (University of Ottawa. Children's Hospital of Eastern Ontario Research Institute) ; Braun, Robert E. (The Jackson Laboratory) ; Caulfield, Mark (Queen Mary University of London. William Harvey Research Institute) ; Cohn, Ronald (The Hospital for Sick Children) ; Dickinson, Mary E. (Baylor College of Medicine. Departments of Molecular Physiology and Biophysics) ; Dobbie, Michael S. (The Australian National University) ; Flenniken, Ann M. (Lunenfeld-Tanenbaum Research Institute. The Centre for Phenogenomics) ; Flicek, Paul (European Bioinformatics Institute) ; Galande, Sanjeev (Indian Institute of Science, Education and Research. National Facility for Gene Function in Health and Disease) ; Gao, Xiang (Nanjing University. SKL of Pharmaceutical Biotechnology and Model Animal Research Center) ; Grobler, Anne (North-West University. Preclinical Drug Development Platform) ; Heaney, Jason D. (Baylor College of Medicine. Department of Molecular and Human Genetics) ; Herault, Yann (Institut de Génétique, Biologie Moléculaire et Cellulaire) ; De Angelis, Martin Hrabe (German Center for Diabetes Research) ; Lupski, James R. (Baylor College of Medicine. Department of Molecular and Human Genetics) ; Lyonnet, Stanislas (Institut Imagine (Paris, França)) ; Mallon, Ann-Marie (Mammalian Genetics Unit and Mary Lyon Centre. Medical Research Council Harwell Institute) ; Mammano, Fabio (Institute of Biochemistry and Cell Biology. Italian National Research Council) ; MacRae, Calum A. (Brigham and Women's Hospital (Boston, Estats Units d'Amèrica)) ; McInnes, Roderick (McGill University. Lady Davis Research Institute) ; McKerlie, Colin (The Hospital for Sick Children) ; Meehan, Terrence F. (European Bioinformatics Institute) ; Murray, Stephen A. (The Jackson Laboratory) ; Nutter, Lauryl M. J. (The Hospital for Sick Children) ; Obata, Yuichi (BioResource Research Center) ; Parkinson, Helen (Indian Institute of Science. National Facility for Gene Function in Health and Disease) ; Pepper, Michael S. (University of Pretoria. Institute for Cellular and Molecular Medicine) ; Sedlacek, Radislav (Czech Centre for Phenogenomics) ; Seong, Je Kyung (Seoul National University. Korea Mouse Phenotyping Consortium) ; Shiroishi, Toshihiko (BioResource Research Center) ; Smedley, Damian (Queen Mary University of London) ; Tocchini-Valentini, Glauco (Institute of Biochemistry and Cell Biology. Italian National Research Council) ; Valle, David (The Johns Hopkins University School of Medicine. McKusick-Nathans Department of Genetic Medicine) ; Wang, Chi-Kuang Leo (National Laboratory Animal Center. National Applied Research Laboratories) ; Wells, Sara (Medical Research Council Harwell Institute) ; White, Jacqueline (The Jackson Laboratory) ; Wurst, Wolfgang (Ludwig Maximillian's Universitat Munchen. Deutsches Zentrum für Neurodegenerative Erkrankungen) ; Xu, Ying (Medical College of Soochow University. Cambridge-Suda Genomic Resource Center) ; Brown, Steve D. M. (Medical Research Council Harwell Institute)
2020 - 10.1186/s13059-020-1931-9
Genome biology, Vol. 21 (february 2020)  
Registre complet - Creative Commons
2.
10 p, 1.0 MB The International Rare Diseases Research Consortium : Policies and Guidelines to maximize impact / Lochmüller, Hanns (Newcastle Upon Tyne, UK) ; Torrent i Farnell, Josep (Universitat Autònoma de Barcelona. Departament de Farmacologia, de Terapèutica i de Toxicologia) ; Le Cam, Yann (Paris, France) ; Jonker, Anneliene H. (IRDiRC Scientific Secretariat, Inserm US-14, Paris, France) ; Lau, Lilian P. L. (IRDiRC Scientific Secretariat, Inserm US-14, Paris, France) ; Baynam, Gareth (Western Australian Register of Developmental Anomalies, WA Perth, Australia) ; Kaufmann, Petra (Bethesda, MD USA) ; Dawkins, Hugh J. S. (Perth, WA Australia) ; Lasko, Paul (Montréal, QC Canada) ; Austin, Christopher P. (Bethesda, MD USA) ; Boycott, Kym M. (Ottawa, ON Canada)
The International Rare Diseases Research Consortium (IRDiRC) has agreed on IRDiRC Policies and Guidelines, following extensive deliberations and discussions in 2012 and 2013, as a first step towards improving coordination of research efforts worldwide. [...]
2017 - 10.1038/s41431-017-0008-z
European Journal of Human Genetics, Vol. 25 (november 2017) , p. 1293-1302  
Registre complet - Creative Commons

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