Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Links AE"'
Autor:
Gall T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Valkanas E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Bello C; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Markello T; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Adams C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Bone WP; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Brandt AJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Brazill JM; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Carmichael L; Appistry, Inc., St. Louis, MO, United States., Davids M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Davis J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Diaz-Perez Z; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Draper D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Elson J; MicroSoft Research, Redmond, WA, United States., Flynn ED; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Godfrey R; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Groden C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Hsieh CK; MicroSoft Research, Redmond, WA, United States., Fischer R; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Golas GA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Guzman J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Huang Y; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Kane MS; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Lee E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Li C; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Links AE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Malicdan MCV; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Malik FS; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Nehrebecky M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Park J; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Pemberton P; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Schaffer K; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Simeonov D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Sincan M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Smedley D; William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, United Kingdom., Valivullah Z; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Wahl C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Washington N; Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, United States., Wolfe LA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Xu K; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Zhu Y; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Tifft CJ; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States., Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States., He M; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States.; Department of Pathology and Laboratory of Medicine, University of Pennsylvania, Philadelphia, PA, United States., Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, CT, United States., Haendel MA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, OR, United States., Zhai RG; Department of Molecular and Cellular Pharmacology, University of Miami School of Medicine, Miami, FL, United States., Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Publikováno v:
Frontiers in medicine [Front Med (Lausanne)] 2017 May 26; Vol. 4, pp. 62. Date of Electronic Publication: 2017 May 26 (Print Publication: 2017).
Autor:
Links AE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Draper D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Lee E; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Guzman J; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Valivullah Z; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Lebedev V; RURO, Inc. , Frederick, MD , USA., Didenko M; RURO, Inc. , Frederick, MD , USA., Tomlin G; RURO, Inc. , Frederick, MD , USA., Brudno M; Centre for Computational Medicine Hospital for Sick Children, Toronto, ON, Canada; Department of Computer Science, University of Toronto, Toronto, ON, Canada., Girdea M; Centre for Computational Medicine Hospital for Sick Children, Toronto, ON, Canada; Department of Computer Science, University of Toronto, Toronto, ON, Canada., Dumitriu S; Centre for Computational Medicine Hospital for Sick Children , Toronto, ON , Canada., Haendel MA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University , Portland, OR , USA., Mungall CJ; Lawrence Berkeley National Laboratory, Division of Environmental Genomics and Systems Biology , Berkeley, CA , USA., Smedley D; Department of Clinical Pharmacology, Queen Mary University London , London , UK., Hochheiser H; Department of Biomedical Informatics and Intelligent Systems, University of Pittsburgh , Pittsburgh, PA , USA., Arnold AM; Agilent Technologies, Inc. , Santa Clara, CA , USA., Coessens B; Agilent Technologies, Inc. , Santa Clara, CA , USA., Verhoeven S; Agilent Technologies, Inc. , Santa Clara, CA , USA., Bone W; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Adams D; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA., Sincan M; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health (NIH), Bethesda, MD, USA; National Human Genome Research Institute, National Institutes of Health (NIH), Bethesda, MD, USA.
Publikováno v:
Frontiers in medicine [Front Med (Lausanne)] 2016 Oct 12; Vol. 3, pp. 39. Date of Electronic Publication: 2016 Oct 12 (Print Publication: 2016).
Autor:
Bone WP; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Washington NL; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA., Buske OJ; Centre for Computational Medicine Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Adams DR; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA., Davis J; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Draper D; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Flynn ED; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Girdea M; Centre for Computational Medicine Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Godfrey R; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Golas G; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Groden C; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Jacobsen J; Skarnes Faculty group, Wellcome Trust Sanger Institute, Hinxton, UK., Köhler S; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Lee EM; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Links AE; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Markello TC; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Mungall CJ; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California, USA., Nehrebecky M; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Robinson PN; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Sincan M; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Soldatos AG; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Tifft CJ; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA., Toro C; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Trang H; Centre for Computational Medicine Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Valkanas E; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Vasilevsky N; Library; and Department of Medical Informatics and Epidemiology, Oregon Health & Science University, Portland, Oregon, USA., Wahl C; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Wolfe LA; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Boerkoel CF; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Brudno M; Centre for Computational Medicine Hospital for Sick Children, Toronto, Ontario, Canada.; Department of Computer Science, University of Toronto, Toronto, Ontario, Canada., Haendel MA; Library; and Department of Medical Informatics and Epidemiology, Oregon Health & Science University, Portland, Oregon, USA., Gahl WA; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA.; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, Maryland, USA., Smedley D; Skarnes Faculty group, Wellcome Trust Sanger Institute, Hinxton, UK.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Jun; Vol. 18 (6), pp. 608-17. Date of Electronic Publication: 2015 Nov 12.
Autor:
Maduro V; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Pusey BN; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Cherukuri PF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Atkins P; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada., du Souich C; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada., Rupps R; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada., Limbos M; Sunny Hill Health Centre for Children, Vancouver, BC, Canada., Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Bhatt SS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Eydoux P; Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, BC, Canada., Links AE; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Lehman A; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada., Malicdan MC; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Mason CE; Department of Physiology and Biophysics, Weill Cornell Medical College, New York, NY, USA.; The HRH Prince Alwaleed Bin Talal Bin Abdulaziz Alsaud Institute for Computational Biomedicine, New York, NY, USA.; The Feil Family Brain and Mind Research Institute (BMRI), New York, NY, USA., Morimoto M; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada., Mullikin JC; NIH Intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Sear A; Department of General Practice, Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada., Van Karnebeek C; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada., Stankiewicz P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gahl WA; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA.; NHGRI, National Institutes of Health, Bethesda, MD, USA., Toro C; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA., Boerkoel CF; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, USA. cboerkoel@gmail.com.; Department of Medical Genetics, University of British Columbia, Children's and Women's Health Centre of BC, Vancouver, BC, Canada. cboerkoel@gmail.com.; Child and Family Research Institute, University of British Columbia, Vancouver, BC, Canada. cboerkoel@gmail.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2016 May 14; Vol. 11 (1), pp. 62. Date of Electronic Publication: 2016 May 14.
Autor:
Buske OJ; Department of Computer Science, University of Toronto, Toronto, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Girdea M; Department of Computer Science, University of Toronto, Toronto, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Dumitriu S; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Gallinger B; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Trang H; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Misyura A; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada., Friedman T; Department of Computer Science, University of Toronto, Toronto, Canada., Beaulieu C; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Bone WP; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland., Links AE; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland., Washington NL; Genomics Division, Lawrence Berkeley National Laboratory, Berkeley, California., Haendel MA; Department of Medical Informatics and Clinical Epidemiology, Oregon Health & Science University, Portland, Oregon., Robinson PN; Institute for Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Boerkoel CF; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland., Adams D; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland., Gahl WA; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Brudno M; Department of Computer Science, University of Toronto, Toronto, Canada.; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.; Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Canada.
Publikováno v:
Human mutation [Hum Mutat] 2015 Oct; Vol. 36 (10), pp. 931-40. Date of Electronic Publication: 2015 Aug 31.