학술논문


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'학술논문' 에서 검색결과 291건 | 목록 1~20
Academic Journal
EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
European Journal of Human Genetics, 10, 3, pp. 197-203
European journal of human genetics
Academic Journal
Progress in Retinal & Eye Research (PROG RETIN EYE RES), Jul2008; 27(4): 391-419. (29p)
Academic Journal
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; MAR 15 2000, 41 4, pS876-pS876, 1p. Supplement: S
Academic Journal
Ghofrani M; Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Yahyaei M; Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.; Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Movasat M; Eye Research Center, Tehran University of Medical Sciences, Farabi Eye Hospital, Tehran, Iran.; Imran Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Keramatipour M; Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
Publisher: Pasteur Institute of Iran Country of Publication: Iran NLM ID: 9814853 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2008-823X (Electronic) Linking ISSN: 1028852X NLM ISO Abbreviation: Iran Biomed J Subsets: PubMed not MEDLINE
Academic Journal
Cornelis SS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Bax NM; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Zernant J; Department of Ophthalmology, Columbia University, New York, New York.; Allikmets R; Department of Ophthalmology, Columbia University, New York, New York.; Department of Pathology & Cell Biology, Columbia University, New York, New York.; Fritsche LG; Department of Public Health, K.G. Jebsen Center for Genetic Epidemiology, NTNU, Norwegian University of Science and Technology, Trondheim, Norway.; den Dunnen JT; Departments of Clinical Genetics and Human Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Ajmal M; Department of Biosciences, Faculty of Science, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.; Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Academic Journal
Liu YP; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA.; Bosch DG; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.; Siemiatkowska AM; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; Rendtorff ND; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark.; Boonstra FN; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.; Möller C; h Audiological Research Centre, Faculty of Medicine and Health , Örebro University , Örebro , Sweden.; Tranebjærg L; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark.; Katsanis N; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA.; Cremers FP; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.
Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE
Academic Journal
Burin-des-Roziers C; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1163, Institut Imagine, Laboratoire de Génétique Ophtalmologique, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Rothschild PR; Service d'ophtalmologie, Groupe Hospitalier Cochin-Hôtel-Dieu, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Layet V; Service de Génétique Médicale, Hôpital Jacques Monod, Le Havre, France.; Chen JM; Institut National de la Santé et de la Recherche Médicale (INSERM), France Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale (UBO), France Etablissement Français du sang (EFS)-Bretagne, Brest, France.; Ghiotti T; Service de Biochimie et de Génétique Moléculaire, Groupe Hospitalier Cochin-Hôtel-Dieu, Assistance Publique-Hôpitaux de Paris, Paris, France.; Leroux C; Service de Biochimie et de Génétique Moléculaire, Groupe Hospitalier Cochin-Hôtel-Dieu, Assistance Publique-Hôpitaux de Paris, Paris, France.; Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Brézin AP; Service d'ophtalmologie, Groupe Hospitalier Cochin-Hôtel-Dieu, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Valleix S; Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1163, Institut Imagine, Laboratoire de Génétique Ophtalmologique, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.; Laboratoire de Génétique Moléculaire, Service de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Academic Journal
Bedoni N; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Haer-Wigman L; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Vaclavik V; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Fertas Andrology Laboratory, Lausanne, Switzerland.; Tran VH; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Farinelli P; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Balzano S; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Royer-Bertrand B; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland.; El-Asrag ME; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Bonny O; Service of Nephrology, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Ikonomidis C; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Litzistorf Y; Department of Otorhinolaryngology, Head and Neck Surgery, Lausanne University Hospital (CHUV), Lausanne, Switzerland.; Nikopoulos K; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.; Yioti GG; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece.; Stefaniotou MI; Department of Ophthalmology, University of Ioannina School of Medicine, Ioannina, Greece.; McKibbin M; The Eye Department, St. James's University Hospital, Leeds, UK.; Booth AP; Royal Eye Infirmary, Derriford Hospital, Plymouth, UK.; Ellingford JM; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.; Black GC; Centre for Genomic Medicine, St. Mary's Hospital, Manchester Academic Health Science Centre, University of Manchester, Manchester, UK.; Toomes C; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Inglehearn CF; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Bax N; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Klaver CC; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Thiadens AA; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Murisier F; Fertas Andrology Laboratory, Lausanne, Switzerland.; Schorderet DF; Institute for Research in Ophtalmology, University of Lausanne and Ecole Polytechnique Federale de Lausanne, Switzerland.; Ali M; Section of Ophthalmology & Neuroscience, Leeds Institute of Biomedical & Clinical Sciences, University of Leeds, Leeds, UK.; Cremers FP; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Andréasson S; Department of Ophthalmology, Lund University, Lund, Sweden.; Munier FL; Jules Gonin Eye Hospital, Lausanne, Switzerland.; Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Lausanne, Switzerland.
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Academic Journal
Bosch DG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Boonstra FN; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.; Kinoshita T; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.; Jhangiani S; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; de Ligt J; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Lupski JR; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Murakami Y; Research Institute for Microbial Diseases and WPI Immunology Frontier Research Center, Osaka University, Suita, Osaka, Japan.; de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
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
Haer-Wigman L; Department of Human Genetics, Radboud Institute for Molecular Life Sciences.; Newman H; Department of Ophthalmology, Tel-Aviv Medical Center, Tel-Aviv, Israel.; Leibu R; Alberto Moscona Department of Ophthalmology.; Bax NM; Department of Ophthalmology.; Baris HN; The Genetic Institute, Rambam Health Care Campus, Haifa, Israel, The Rappaport Faculty of Medicine.; Rizel L; The Rappaport Faculty of Medicine, Rappaport Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.; Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel and.; Massarweh A; The Rappaport Faculty of Medicine, Rappaport Research Institute, Technion-Israel Institute of Technology, Haifa, Israel.; Roosing S; Department of Human Genetics, Radboud Institute for Molecular Life Sciences.; Lefeber DJ; Radboud Institute for Molecular Life Sciences, Department of Neurology, Translational Metabolic Laboratory, Radboud University Medical Center, Nijmegen, The Netherlands.; Zonneveld-Vrieling MN; Radboud Institute for Molecular Life Sciences.; Isakov O; Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.; Shomron N; Sackler Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.; Sharon D; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel and.; Den Hollander AI; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Department of Ophthalmology.; Hoyng CB; Department of Ophthalmology.; Cremers FP; Department of Human Genetics, Radboud Institute for Molecular Life Sciences.; Ben-Yosef T; The Rappaport Faculty of Medicine, Rappaport Research Institute, Technion-Israel Institute of Technology, Haifa, Israel, benyosef@tx.technion.ac.il.
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Academic Journal
Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Zobor D; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Chiang WC; Department of Pathology, University of California, San Diego, La Jolla, California, USA.; Weisschuh N; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Staller J; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Gonzalez Menendez I; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Chang S; 1] Department of Ophthalmology, Columbia University, New York, New York, USA. [2] Edward Harkness Eye Institute, New York Presbyterian Hospital, New York, New York, USA.; Beck SC; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Garcia Garrido M; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Sothilingam V; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Seeliger MW; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Stanzial F; Clinical Genetics Service, Regional Hospital Bozen, Bozen, Italy.; Benedicenti F; Clinical Genetics Service, Regional Hospital Bozen, Bozen, Italy.; Inzana F; Clinical Genetics Service, Regional Hospital Bozen, Bozen, Italy.; Héon E; Department of Ophthalmology and Vision Sciences, Programme of Genetics and Genomic Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Vincent A; Department of Ophthalmology and Vision Sciences, Programme of Genetics and Genomic Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Beis J; Medical Genetics, IWK Health Centre, Halifax, Nova Scotia, Canada.; Strom TM; 1] Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany. [2] Institute of Human Genetics, Technische Universität München, Munich, Germany.; Rudolph G; University Eye Hospital, Ludwig Maximilians University, Munich, Germany.; Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Hollander AI; 1] Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands. [2] Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Lopez I; McGill Ocular Genetics Centre, McGill University Health Centre, Montreal, Quebec, Canada.; Ren H; McGill Ocular Genetics Centre, McGill University Health Centre, Montreal, Quebec, Canada.; Moore AT; 1] University College London Institute of Ophthalmology, University College London, London, UK. [2] Moorfields Eye Hospital, London, UK. [3] Ophthalmology Department, University of California San Francisco Medical School, San Francisco, California, USA.; Webster AR; 1] University College London Institute of Ophthalmology, University College London, London, UK. [2] Moorfields Eye Hospital, London, UK.; Michaelides M; 1] University College London Institute of Ophthalmology, University College London, London, UK. [2] Moorfields Eye Hospital, London, UK.; Koenekoop RK; McGill Ocular Genetics Centre, McGill University Health Centre, Montreal, Quebec, Canada.; Zrenner E; 1] Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany. [2] Werner Reichardt Center for Integrative Neuroscience, University of Tübingen, Tübingen, Germany.; Kaufman RJ; Degenerative Diseases Program, Sanford-Burnham Medical Research Institute, La Jolla, California, USA.; Tsang SH; 1] Department of Ophthalmology, Columbia University, New York, New York, USA. [2] Jonas Laboratory of Stem Cell and Regenerative Medicine, Columbia University, New York, New York, USA. [3] Brown Glaucoma Laboratory, Columbia University, New York, New York, USA. [4] Institute of Human Nutrition, Columbia University, New York, New York, USA. [5] Department of Pathology and Cell Biology, Columbia University, New York, New York, USA.; Wissinger B; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.; Lin JH; 1] Department of Pathology, University of California, San Diego, La Jolla, California, USA. [2] Department of Ophthalmology, University of California, San Diego, La Jolla, California, USA.
Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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