학술논문


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'학술논문' 에서 검색결과 31건 | 목록 1~20
Academic Journal
Merepa SS; Faculty of Health, Science and Technology, School of Biological and Medical Sciences, Oxford Brookes University, Headington Campus, Gipsy Lane, Oxford, UK.; Reis LM; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.; Damián A; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; U704 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Bardakjian T; Einstein Medical Center Philadelphia, Philadelphia, PA, USA.; Schneider A; Einstein Medical Center Philadelphia, Philadelphia, PA, USA.; Wills Eye Hospital, Philadelphia, PA, USA.; Trujillo-Tiebas MJ; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; U704 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Ayuso C; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; U704 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Galarza LC; Hospital Universitario Donostia, San Sebastián, Spain.; Saez Villaverde R; Hospital Universitario Donostia, San Sebastián, Spain.; Ortiz-Cabrera NV; Department of Genetics, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.; Bax DA; Faculty of Health, Science and Technology, School of Biological and Medical Sciences, Oxford Brookes University, Headington Campus, Gipsy Lane, Oxford, UK.; Holt R; Faculty of Health, Science and Technology, School of Biological and Medical Sciences, Oxford Brookes University, Headington Campus, Gipsy Lane, Oxford, UK.; Ceroni F; Faculty of Health, Science and Technology, School of Biological and Medical Sciences, Oxford Brookes University, Headington Campus, Gipsy Lane, Oxford, UK.; Edery P; Université Claude Bernard Lyon 1, INSERM, CNRS, Centre de Recherche en Neurosciences de Lyon CRNL U1028 UMR5292, Genetics of Neurodevelopment Team, Bron, France.; Department of Genetics, Clinical Genetics Unit, Centre de Référence Maladies Rares des Anomalies du Développement, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Bron, France.; Grelet M; Centre Hospitalier Intercommunal de Toulon- La Seyne sur mer, Service de Génétique Médicale, Toulon, France.; Riccardi F; Centre Hospitalier Intercommunal de Toulon- La Seyne sur mer, Service de Génétique Médicale, Toulon, France.; Maillard L; Service d'Opthalmologie, Hôpital Purpan, CHU Toulouse, Toulouse, France.; Costakos D; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.; Plaisancié J; Laboratoire de Référence (LBMR) des anomalies malformatives de l'œil, Institut Fédératif de Biologie (IFB), CHU Toulouse, Toulouse, France.; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Molecular, Cellular and Developmental Biology Unit (MCD), Centre de Biologie Intégrative (CBI), Université de Toulouse, CNRS, UPS, Toulouse, France.; Chassaing N; Laboratoire de Référence (LBMR) des anomalies malformatives de l'œil, Institut Fédératif de Biologie (IFB), CHU Toulouse, Toulouse, France.; Centre de Référence des Affections Rares en Génétique Ophtalmologique CARGO, Site Constitutif, CHU Toulouse, Toulouse, France.; Corton M; Department of Genetics & Genomics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital - Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; U704 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Semina EV; Department of Ophthalmology and Visual Sciences, Medical College of Wisconsin, Milwaukee, WI, USA.; Department of Pediatrics, Medical College of Wisconsin, Milwaukee, WI, USA.; Ragge NK; Faculty of Health, Science and Technology, School of Biological and Medical Sciences, Oxford Brookes University, Headington Campus, Gipsy Lane, Oxford, UK. nragge@brookes.ac.uk.; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Foundation Trust, Birmingham, UK. nragge@brookes.ac.uk.
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
Academic Journal
Plaisancié J; Laboratoire National de Référence (LBMR), Génétique des anomalies malformatives de l'œil, CHU Toulouse, Toulouse, France plaisancie.j@chu-toulouse.fr.; Unité ToNIC Inserm 1214, CHU Toulouse, Toulouse, France.; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), CHU Toulouse, Toulouse, France.; Martinovic J; Département de Génétique, Unité de Fœtopathologie, Hopital Necker-Enfants Malades, Paris, France.; Chesneau B; Laboratoire National de Référence (LBMR), Génétique des anomalies malformatives de l'œil, CHU Toulouse, Toulouse, France.; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), CHU Toulouse, Toulouse, France.; Whalen S; Genetique Medicale, Hopital Armand-Trousseau, Paris, France.; Rodriguez D; Département de Génétique, Hôpitaux Universitaires Paris Ile-de-France Ouest, Paris, France.; Audebert-Bellanger S; Service de Génétique Médicale, CHU Brest, Brest, France.; Marzin P; Fédération de Génétique et Médecine Génomique, Service de Médecine Génomique des Maladies Rares, Necker-Enfants Malades Hospitals, Paris, France.; Grotto S; Maternité Port-Royal, FHU PREMA, Hôpital Cochin, Paris, France.; Perthus I; Centre d'Etude des Malformations Congénitales en Auvergne, Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.; Holt RJ; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Bax DA; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Ragge N; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Chassaing N; Laboratoire National de Référence (LBMR), Génétique des anomalies malformatives de l'œil, CHU Toulouse, Toulouse, France.; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), CHU Toulouse, Toulouse, France.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Ceroni F; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.; Osborne D; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.; Clokie S; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Foundation Trust, Birmingham, UK.; Bax DA; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Cassidy EJ; Wessex Regional Genetics Laboratory, Salisbury NHS Foundation Trust, Salisbury District Hospital, Salisbury, UK.; Dunn MJ; School of Optometry and Vision Sciences, Cardiff University, Cardiff, UK.; Harris CM; Royal Eye Infirmary, Derriford Hospital, Plymouth, UK.; Self JE; Clinical and Experimental Sciences, Faculty of Medicine, University of Southampton, Southampton, UK.; Ragge NK; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK. nragge@brookes.ac.uk.; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Foundation Trust, Birmingham, UK. nragge@brookes.ac.uk.
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
Academic Journal
Puget S; Department of Neurosurgery, Necker-Sick Children Hospital, University Paris V Descartes, Paris, France.; Philippe CBax DAJob BVarlet PJunier MPAndreiuolo FCarvalho DReis RGuerrini-Rousseau LRoujeau TDessen PRichon CLazar VLe Teuff GSainte-Rose CGeoerger BVassal GJones CGrill J
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Viana-Pereira M; Life and Health Sciences Research Institute (ICVS), School of Health Sciences, University of Minho, Braga, Portugal.; Lee APopov SBax DAAl-Sarraj SBridges LRStávale JNHargrave DJones CReis RM
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Holt RJ; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.; Young RM; Department of Cell and Developmental Biology, Biosciences, University College London, Gower St, London WC1E 6BT, UK; Institute of Ophthalmology, University College London, 11-34 Bath Street, London EC1V 9EL, UK.; Crespo B; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Ceroni F; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.; Curry CJ; Genetic Medicine, University of California, San Francisco/Fresno, Fresno, CA 93701, USA.; Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Scientific Institute for Research, Hospitalization, and Healthcare, 00146 Rome, Italy.; Bax DA; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK.; Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Scientific Institute for Research, Hospitalization, and Healthcare, 00146 Rome, Italy.; Simon M; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.; Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark.; van Binsbergen E; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands.; De Luca A; Molecular Genetics Unit, Fondazione Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.; Memo L; Unità Operativa Complessa di Pediatria e Patologia Neonatale, Ospedale San Martino, 32100 Belluno, Italy.; Dobyns WB; University of Washington, Seattle, WA 98195-6320, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle WA 98101, USA.; Mohammed AA; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2TG, UK; Clinical and Chemical Pathology Department, Faculty of Medicine, Cairo University, 11562 Cairo, Egypt.; Clokie SJH; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2TG, UK.; Zazo Seco C; UDEAR, Université de Toulouse, UMRS 1056 Institut National de la Santé et de la Recherche Médicale-Université Paul Sabatier, 31059 Toulouse, France.; Jiang YH; Department of Pediatrics and Neurobiology, Program in Genetics and Genomics, Duke University School of Medicine, Durham, NC 27710, USA.; Sørensen KP; Department of Clinical Genetics, Odense University Hospital, 5000 Odense C, Denmark.; Andersen H; Hans Christian Andersen Children's Hospital, Odense University Hospital, 5000 Odense C, Odense, Denmark.; Sullivan J; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.; Powis Z; Department of Clinical Affairs, Ambry Genetics, Aliso Viejo, CA 92656, USA.; Chassevent A; Department of Neurology, Division of Neurogenetics Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Smith-Hicks C; Department of Neurology, Division of Neurogenetics Kennedy Krieger Institute, Baltimore, MD 21205, USA.; Petrovski S; Centre for Genomics Research, Discovery Sciences, Biopharmaceuticals R&D, AstraZeneca, Cambridge, CB4 0WG, UK; Department of Medicine, the University of Melbourne, Melbourne, VIC 3010, Australia.; Antoniadi T; West Midlands Regional Genetics Laboratory, Birmingham Women's and Children's National Health Service Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham B15 2TG, UK.; Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27710, USA.; Gelb BD; Mindich Child Health and Development Institute, Department of Pediatrics, and Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Wilson SW; Department of Cell and Developmental Biology, Biosciences, University College London, Gower St, London WC1E 6BT, UK.; Gerrelli D; Great Ormond Street Institute of Child Health, University College London, London WC1N 1EH, UK.; Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Scientific Institute for Research, Hospitalization, and Healthcare, 00146 Rome, Italy.; Chassaing N; UDEAR, Université de Toulouse, UMRS 1056 Institut National de la Santé et de la Recherche Médicale-Université Paul Sabatier, 31059 Toulouse, France; Department of Medical Genetics, Purpan University Hospital, 31059 Toulouse, France.; Calvas P; UDEAR, Université de Toulouse, UMRS 1056 Institut National de la Santé et de la Recherche Médicale-Université Paul Sabatier, 31059 Toulouse, France; Department of Medical Genetics, Purpan University Hospital, 31059 Toulouse, France.; Ragge NK; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford OX3 0BP, UK; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's National Health Service Foundation Trust, Birmingham, B15 2TG, UK. Electronic address: nragge@brookes.ac.uk.
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
Bax DA; Paediatric Oncology, The Institute of Cancer Research, Sutton, United Kingdom.; Little SEGaspar NPerryman LMarshall LViana-Pereira MJones TAWilliams RDGrigoriadis AVassal GWorkman PSheer DReis RMPearson ADHargrave DJones C
Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE
Academic Journal
Bax DA; Department of Gastroenterology and Hepatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Siersema PDHaringsma JKuipers EJVos AJVan Dekken HVan Vliet AHKusters JG
Publisher: Informa Healthcare Country of Publication: England NLM ID: 0060105 Publication Model: Print Cited Medium: Print ISSN: 0036-5521 (Print) Linking ISSN: 00365521 NLM ISO Abbreviation: Scand J Gastroenterol Subsets: MEDLINE
Academic Journal
Paugh BS; Authors' Affiliations: Departments of Developmental Neurobiology, Computational Biology, Biostatistics, Oncology, and Pathology, St. Jude Children's Research Hospital; Interdisciplinary Biomedical Science Program, University of Tennessee Health Sciences Center, Memphis, Tennessee; Telethon Institute for Child Health Research, Centre for Child Health Research, The University of Western Australia, Perth, Australia; Divisions of Molecular Pathology and Cancer Therapeutics, The Institute of Cancer Research, London, United Kingdom; and Molecular Oncology Research Center, Barretos Cancer Hospital, Barretos, São Paulo, Brazil.; Zhu XQu CEndersby RDiaz AKZhang JBax DACarvalho DReis RMOnar-Thomas ABroniscer AWetmore CZhang JJones CEllison DWBaker SJ
Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE
Academic Journal
Bjerke L; Divisions of Molecular Pathology and Cancer Therapeutics. The Institute of Cancer Research, Suttonn, Surrey, United Kingdom.; Mackay ANandhabalan MBurford AJury APopov SBax DACarvalho DTaylor KRVinci MBajrami IMcGonnell IMLord CJReis RMHargrave DAshworth AWorkman PJones C
Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101561693 Publication Model: Print Cited Medium: Internet ISSN: 2159-8290 (Electronic) Linking ISSN: 21598274 NLM ISO Abbreviation: Cancer Discov Subsets: MEDLINE
Academic Journal
Little SE; Divisions of Molecular Pathology, The Institute of Cancer Research, Sutton, United Kingdom.; Popov SJury ABax DADoey LAl-Sarraj SJurgensmeier JMJones C
Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE
Academic Journal
Gaspar N; Paediatric Oncology, and Cancer Research UK Centre for Cancer Therapeutics, The Institute of Cancer Research, and Paediatric Oncology, The Royal Marsden NHS Foundation Trust, Sutton, United Kingdom.; Marshall LPerryman LBax DALittle SEViana-Pereira MSharp SYVassal GPearson ADReis RMHargrave DWorkman PJones C
Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 2984705R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7445 (Electronic) Linking ISSN: 00085472 NLM ISO Abbreviation: Cancer Res Subsets: MEDLINE
Academic Journal
Bax DA; Section of Paediatric Oncology, The Institute of Cancer Research, Royal Marsden Hospital, Sutton, United Kingdom.; Mackay ALittle SECarvalho DViana-Pereira MTamber NGrigoriadis AEAshworth AReis RMEllison DWAl-Sarraj SHargrave DJones C
Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 9502500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1557-3265 (Electronic) Linking ISSN: 10780432 NLM ISO Abbreviation: Clin Cancer Res Subsets: MEDLINE
Academic Journal
Paugh BS; St Jude Children's Research Hospital, Memphis, TN 38105, USA.; Qu CJones CLiu ZAdamowicz-Brice MZhang JBax DACoyle BBarrow JHargrave DLowe JGajjar AZhao WBroniscer AEllison DWGrundy RGBaker SJ
Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 8309333 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-7755 (Electronic) Linking ISSN: 0732183X NLM ISO Abbreviation: J Clin Oncol Subsets: MEDLINE
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[AR] Bax, Dorine A
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