학술논문


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'학술논문' 에서 검색결과 71건 | 목록 1~20
Academic Journal
Andhika NS; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Biswas S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Hardcastle C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Green DJ; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Ramsden SC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK.; Black GC; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Sergouniotis PI; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK. panagiotis.sergouniotis@manchester.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Wellcome Genome Campus, Cambridge, UK. panagiotis.sergouniotis@manchester.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
J Med Genet
Ellingford, J, Horn, B, Campbell, C, Arno, G, Barton, S, Tate, C, Bhaskar, S, Sergouniotis, P, Taylor, R L, Carss, K J, Raymond, F L, Michaelides, M, Ramsden, S C, Webster, A R & Black, G 2018, 'Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.', Journal of Medical Genetics, vol. 55, no. 2, pp. 114-121. https://doi.org/10.1136/jmedgenet-2017-104791
Academic Journal
Powell L; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Olinger E; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Wedderburn S; Clinical Genetics, NHS Greater Glasgow and Clyde, Glasgow, UK.; Ramakumaran VS; Clinical Genetics, Oxford University Hospital, Oxford, UK.; Kini U; Clinical Genetics, Oxford University Hospital, Oxford, UK.; Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.; Ramsden SC; Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Foundation Trust, Manchester M13 9WL, UK.; Rice SJ; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Barroso-Gil M; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Wilson I; Biosciences Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Cowley L; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Johnson S; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Harris E; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Montgomery T; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Bertoli M; Clinical Genetics, Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.; Boltshauser E; Paediatric Neurology (Emeritus), Children's University Hospital, Zürich, Switzerland.; Sayer JA; Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Academic Journal
Sergouniotis PI; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK panagiotis.sergouniotis@manchester.ac.uk benoit.arveiler@chu-bordeaux.fr graeme.black@manchester.ac.uk.; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Michaud V; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.; Lasseaux E; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; Campbell C; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Plaisant C; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France.; Javerzat S; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, France.; Birney E; European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL- EBI), Wellcome Genome Campus, Cambridge, UK.; Ramsden SC; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Black GC; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK panagiotis.sergouniotis@manchester.ac.uk benoit.arveiler@chu-bordeaux.fr graeme.black@manchester.ac.uk.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Arveiler B; Department of Medical Genetics, University Hospital of Bordeaux, Bordeaux, France panagiotis.sergouniotis@manchester.ac.uk benoit.arveiler@chu-bordeaux.fr graeme.black@manchester.ac.uk.; INSERM U1211, Rare Diseases, Genetics and Metabolism, University of Bordeaux, Bordeaux, 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
Lenassi E; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Carvalho A; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Medical Genetic Unit, Pediatric Hospital, Coimbra Hospital and Universitary Centre (CHUC), Coimbra, Portugal.; Thormann A; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.; Abrahams L; Genomics England Ltd, London, UK.; Arno G; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Fletcher T; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Hardcastle C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Lopez J; Genomics England Ltd, London, UK.; Hunt SE; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.; Short P; Sano Genetics Ltd, Cambridge, UK.; Sergouniotis PI; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Manchester Royal Eye Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Michaelides M; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Webster A; UCL Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.; Cunningham F; European Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.; Ramsden SC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Kasperaviciute D; Genomics England Ltd, London, UK.; Fitzpatrick DR; MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Black GC; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Ellingford JM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK jamie.ellingford@manchester.ac.uk.; Genomics England Ltd, London, UK.
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Academic Journal
Hull, S, Arno, G, Plagnol, V, Chamney, S, Russell-Eggitt, I, Thompson, D, Ramsden, S C, Black, G C M, Robson, A, Holder, G E, Moore, A T & Webster, A R 2014, 'The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.', Investigative ophthalmology & visual science, vol. 55, no. 10. https://doi.org/10.1167/iovs.14-14715
Academic Journal
Geoghegan S; Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.; King G; Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.; Henchliffe J; St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester Centre for Genomic Medicine, Manchester, United Kingdom.; Ramsden SC; St. Mary's Hospital, Manchester Academic Health Science Centre, Manchester Centre for Genomic Medicine, Manchester, United Kingdom.; Barry RJ; Department of Paediatrics and Child Health, Mercy University Hospital, Cork, Ireland.; Green AJ; Department of Clinical Genetics, Our Lady's Hospital Crumlin, School of Medicine and Medical Science, University College Dublin, Dublin, Ireland.; O'Connell SM; Department of Paediatrics and Child Health, Cork University Hospital, Cork, Ireland.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Report
Ellingford JM; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, M13 9PT, UK. jamie.ellingford@manchester.ac.uk.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK. jamie.ellingford@manchester.ac.uk.; Genomics England, London, UK. jamie.ellingford@manchester.ac.uk.; Ahn JW; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Bagnall RD; Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, University of Sydney, Sydney, Australia.; Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Barton S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Campbell C; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Downes K; Cambridge Genomics Laboratory, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.; Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.; South West Genomic Laboratory Hub, Exeter Genomic Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Duff-Farrier C; South West NHS Genomic Laboratory Hub, Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK.; FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Western General Hospital, Edinburgh, UK.; Greally JM; Department of Pediatrics, Division of Pediatric Genetic, Medicine, Children's Hospital at Montefiore/Montefiore Medical Center/Albert, Einstein College of Medicine, Bronx, NY, USA.; Ingles J; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Krishnan N; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Lord J; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Martin HC; Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.; Newman WG; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, M13 9PT, UK.; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Ramsden SC; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, M13 9WL, UK.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Richardson E; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Taylor JC; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK.; Williams M; South West NHS Genomic Laboratory Hub, Bristol Genetics Laboratory, North Bristol NHS Trust, Bristol, UK.; Wood JC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wright CF; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.; Harrison SM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ambry Genetics, Aliso Viejo, CA, USA.; Whiffin N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. nwhiffin@well.ox.ac.uk.; Wellcome Centre for Human Genetics, University of Oxford, Oxford, OX3 7BN, UK. nwhiffin@well.ox.ac.uk.
Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
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[AR] Ramsden, Simon C
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