학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 105건 | 목록 1~10
Kennedy J; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; University of Bristol, Bristol, UK.; Goudie D; Clinical Genetics, Ninewells Hospital & Medical School, Dundee, UK.; Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.; Chandler K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester Foundation NHS Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.; Joss S; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; McKay V; Cheshire & Merseyside Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK.; Green A; Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.; Lees M; Clinical Genetics, Great Ormond Street Hospital NHS Trust, London, UK.; Kamien B; Hunter Genetics, Newcastle, Australia.; Hopper B; Hunter Genetics, Newcastle, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Yap P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Genetic Health Service New Zealand, Auckland, New Zealand.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Okamoto N; Department of Medical Genetics, Osaka Medical Center, Osaka, Japan.; Research Institute for Maternal and Child Health, Osaka Medical Center, Osaka, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Macnamara E; National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Murphy JL; National Human Genome Research Institute, NIH, Bethesda, MD, USA.; McCormick E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Falk MJ; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Blackburn P; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Klee E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Schelley S; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Hudgins L; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Kant S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Bradbury K; Clinical Genetics Guys and St Thomas' NHS Foundation Trust, Guys Hospital, London, UK.; Williams M; Molecular Diagnostics, Mater Group, South Brisbane, Queensland, Australia.; Patel C; Genetic Health Queensland, Herston, Brisbane, Queensland, Australia.; Heussler H; Child Development Service, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; Duff-Farrier C; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.; Lakeman P; Academic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.; Scurr I; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.; Elting M; Klinisch Geneticus, VU Medisch centrum, Amsterdam, The Netherlands.; Reijnders M; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Schuurs-Hoeijmakers J; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Wafik M; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.; Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Ruivenkamp CAL; Klinische Genetica, Leiden University, Leiden, The Netherlands.; Nibbeling E; Department of Genetics, University of Groningen, Groningen, The Netherlands.; Dingemans AJM; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Arboleda VA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.; Newbury-Ecob R; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK. Ruth.Newbury-Ecob@UHBristol.nhs.uk.; University of Bristol, Bristol, UK. Ruth.Newbury-Ecob@UHBristol.nhs.uk.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Yoon WH; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Jangam S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Fernandez L; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Davidson JM; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Kyle JE; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Grove ME; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA.; Fisk DG; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA.; Kohler JN; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Holmes M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Dries AM; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Huang Y; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Zhao C; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Contrepois K; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Zappala Z; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Frésard L; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Waggott D; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Zink EM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Kim YM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Heyman HM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Stratton KG; Computing & Analytics Division, National Security Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Webb-Robertson BM; Computing & Analytics Division, National Security Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Snyder M; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Merker JD; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Montgomery SB; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Fisher PG; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA.; Feichtinger RG; Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.; Mayr JA; Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria.; Hall J; Department of Neuroradiology, Royal Victoria Infirmary, Newcastle upon Tyne NE1 4LP, UK.; Barbosa IA; Department of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London SE1 9RT, UK.; Simpson MA; Department of Medical and Molecular Genetics, King's College London School of Basic and Medical Biosciences, London SE1 9RT, UK.; Deshpande C; Clinical Genetics Unit, Guys and St. Thomas' NHS Foundation Trust, London SE1 9RT, UK.; Waters KM; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Koeller DM; Department of Molecular & Medical Genetics, Oregon Health & Science University, Portland, OR 97239, USA.; Metz TO; Biological Sciences Division, Earth and Biological Sciences Directorate, Pacific Northwest National Laboratory, Richland, WA 99352, USA.; Morris AA; Institute of Human Development, University of Manchester, Manchester M13 9PL, UK; Willink Metabolic Unit, Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK.; Schelley S; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Cowan T; Department of Pathology, Stanford University, Stanford, CA 94305, USA.; Friederich MW; Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO 80045, USA.; McFarland R; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Van Hove JLK; Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado at Denver, Aurora, CO 80045, USA.; Enns GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Ashley EA; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Clinical Genomics Program, Stanford Health Care, Stanford, CA 94305, USA; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA.; Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.; Bellen HJ; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA.; Bernstein JA; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94305, USA.; Wheeler MT; Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305, USA; Department of Medicine, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: wheelerm@stanford.edu.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
Academic Journal
Kennedy J; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; University of Bristol, Bristol, UK.; Goudie D; Clinical Genetics, Ninewells Hospital & Medical School, Dundee, UK.; Blair E; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.; Chandler K; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Central Manchester Foundation NHS Trust, Manchester Academic Health Science Centre (MAHSC), Manchester, UK.; Joss S; West of Scotland Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.; McKay V; Cheshire & Merseyside Regional Genetics Service, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK.; Green A; Department of Clinical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland.; School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; Armstrong R; East Anglian Medical Genetics Service, Addenbrooke's Hospital, Cambridge, UK.; Lees M; Clinical Genetics, Great Ormond Street Hospital NHS Trust, London, UK.; Kamien B; Hunter Genetics, Newcastle, Australia.; Hopper B; Hunter Genetics, Newcastle, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Yap P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Genetic Health Service New Zealand, Auckland, New Zealand.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.; Okamoto N; Department of Medical Genetics, Osaka Medical Center, Osaka, Japan.; Research Institute for Maternal and Child Health, Osaka Medical Center, Osaka, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Macnamara E; National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Murphy JL; National Human Genome Research Institute, NIH, Bethesda, MD, USA.; McCormick E; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Hakonarson H; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Falk MJ; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Blackburn P; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Klee E; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Babovic-Vuksanovic D; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Schelley S; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Hudgins L; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, CA, USA.; Kant S; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes, France.; Bradbury K; Clinical Genetics Guys and St Thomas' NHS Foundation Trust, Guys Hospital, London, UK.; Williams M; Molecular Diagnostics, Mater Group, South Brisbane, Queensland, Australia.; Patel C; Genetic Health Queensland, Herston, Brisbane, Queensland, Australia.; Heussler H; Child Development Service, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.; Duff-Farrier C; Bristol Genetics Laboratory, Southmead Hospital, Bristol, UK.; Lakeman P; Academic Medical Center, Department of Clinical Genetics, Amsterdam, The Netherlands.; Scurr I; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK.; Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.; Elting M; Klinisch Geneticus, VU Medisch centrum, Amsterdam, The Netherlands.; Reijnders M; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Schuurs-Hoeijmakers J; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Wafik M; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.; Department of Clinical Genetics, Churchill Hospital, Headington, Oxford, UK.; Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.; Ruivenkamp CAL; Klinische Genetica, Leiden University, Leiden, The Netherlands.; Nibbeling E; Department of Genetics, University of Groningen, Groningen, The Netherlands.; Dingemans AJM; Radboud University Medical Center, Department of Human Genetics, Nijmegen, The Netherlands.; Douine ED; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Nelson SF; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA.; Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Johannsen J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246, Hamburg, Germany.; Arboleda VA; Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, UCLA, Los Angeles, CA, USA. varboleda@mednet.ucla.edu.; Newbury-Ecob R; Clinical Genetics, University Hospitals Bristol, Southwell St, Bristol, UK. Ruth.Newbury-Ecob@UHBristol.nhs.uk.; University of Bristol, Bristol, UK. Ruth.Newbury-Ecob@UHBristol.nhs.uk.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Chen HI; Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA, USA.; Jagadeesh KA; Department of Computer Science, Stanford University School of Engineering, Stanford, CA, USA.; Birgmeier J; Department of Computer Science, Stanford University School of Engineering, Stanford, CA, USA.; Wenger AM; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Guturu H; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Schelley S; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. jon.bernstein@stanford.edu.; Bejerano G; Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA, USA. bejerano@stanford.edu.; Department of Computer Science, Stanford University School of Engineering, Stanford, CA, USA. bejerano@stanford.edu.; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA. bejerano@stanford.edu.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
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