학술논문
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'학술논문'
에서 검색결과 57건 | 목록
1~20
Academic Journal
Papon, J F; Perrault, I; Coste, A; Louis, B; Gérard, X; Hanein, S; Fares-Taie, L; Gerber, S; Defoort-Dhellemmes, S; Vojtek, A M; Kaplan, J; Rozet, J M; Escudier, E
Journal of Medical Genetics. Dec 01, 2010 47(12):829-834
Academic Journal
Souied, E; Segues, B; Ghazi, I; Rozet, J M; Chatelin, S; Gerber, S; Perrault, I; Michel-Awad, A; Briard, M L; Plessis, G; Dufier, J L; Munnich, A; Kaplan, J
Journal of Medical Genetics; Oct1997, Vol. 34 Issue 10, p793-797, 5p, 1 Color Photograph, 1 Diagram, 2 Charts, 1 Graph
Academic Journal
Journal of Medical Genetics; May1993, Vol. 30 Issue 5, p381-384, 4p, 1 Diagram, 3 Charts, 1 Graph
Academic Journal
Plaisancié J; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France. plaisancie.j@chu-toulouse.fr.; INSERM U1056, Université Toulouse III, Toulouse, France. plaisancie.j@chu-toulouse.fr.; Tarilonte M; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Ramos P; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Jeanton-Scaramouche C; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France.; Gaston V; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France.; Dollfus H; Centre de Référence pour les affections rares en génétique ophtalmologique, CARGO, Filière SENSGENE, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Aguilera D; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Kaplan J; Laboratoire de Génétique Ophtalmologique INSERM U1163, Institut Imagine, Paris, France.; Fares-Taie L; Laboratoire de Génétique Ophtalmologique INSERM U1163, Institut Imagine, Paris, France.; Blanco-Kelly F; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Villaverde C; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Francannet C; Service de Génétique Médicale, CHU Estaing, Clermont-Ferrand, France.; Goldenberg A; Service de Génétique, CHU de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.; Arroyo I; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetics, Hospital of Cáceres, Cáceres, Spain.; Rozet JM; Laboratoire de Génétique Ophtalmologique INSERM U1163, Institut Imagine, Paris, France.; Ayuso C; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Chassaing N; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France.; INSERM U1056, Université Toulouse III, Toulouse, France.; Calvas P; Service de Génétique Médicale, Pavillon Lefebvre, Hôpital Purpan, CHU Toulouse, Place du Dr Baylac, 31059, Toulouse Cedex 9, France.; INSERM U1056, Université Toulouse III, Toulouse, France.; Corton M; Department of Genetics, Instituto de Investigacion Sanitaria-Fundacion Jimenez Diaz University Hospital-Universidad Autónoma de Madrid (IIS-FJD, UAM), Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Academic Journal
Gerber, S; Larget-Piet, D; Rozet, J M; Bonneau, D; Mathieu, M; Der Kaloustian, V; Munnich, A; Kaplan, J
Journal of Medical Genetics; Jan1996, Vol. 33 Issue 1, p77-79, 3p
Academic Journal
Bonneau, D; Souied, E; Gerber, S; Rozet, J M; D'Haens, E; Journel, H; Plessis, G; Weissenbach, J; Munnich, A; Kaplan, J
Journal of Medical Genetics; Dec1995, Vol. 32 Issue 12, p951-953, 3p, 1 Diagram, 1 Chart, 1 Graph
Academic Journal
Gerber S; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, Hôpital Necker-Enfants Malades, Paris, France.; Perrault I; Hanein S; Barbet F; Ducroq D; Ghazi I; Martin-Coignard D; Leowski C; Homfray T; Dufier JL; Munnich A; Kaplan J; Rozet JM
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Gerber S; INSERM U393, Hôpital Necker, Paris, France.; Rozet JM; Takezawa SI; dos Santos LC; Lopes L; Gribouval O; Penet C; Perrault I; Ducroq D; Souied E; Jeanpierre M; Romana S; Frézal J; Ferraz F; Yu-Umesono R; Munnich A; Kaplan J
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Academic Journal
Perrault I; Service de Génétique Médicale et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants Malades, Paris, France.; Rozet JM; Gerber S; Ghazi I; Ducroq D; Souied E; Leowski C; Bonnemaison M; Dufier JL; Munnich A; Kaplan J
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Rozet JM; Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital Necker-Enfants Malades, Paris, France. MUNNICH3@CIT12.FR; Gerber S; Souied E; Perrault I; Châtelin S; Ghazi I; Leowski C; Dufier JL; Munnich A; Kaplan J
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print Cited Medium: Print ISSN: 1018-4813 (Print) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Rozet JM; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Paris Cedex 15, France.; Gerber S; Perrault I; Calvas P; Souied E; Châtelin S; Viegas-Péquignot; Molina-Gomez D; Munnich A; Kaplan J
Publisher: Karger Country of Publication: Switzerland NLM ID: 0367735 Publication Model: Print Cited Medium: Print ISSN: 0301-0171 (Print) Linking ISSN: 03010171 NLM ISO Abbreviation: Cytogenet Cell Genet Subsets: MEDLINE
Academic Journal
Aboussair N; Département de Génétique Médicale, Institut National d'Hygiène, Rabat, Maroc. nisrineaboussair@yahoo.fr; Berahou A; Perrault I; Elalaoui SC; Megzari A; Rozet JM; Kaplan J; Sefiani A
Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597 (Electronic) Linking ISSN: 01815512 NLM ISO Abbreviation: J Fr Ophtalmol Subsets: MEDLINE
Academic Journal
Rozet JM; Unité de Recherche sur les Handicaps Génétiques de l'Enfant, Insitut National de la Santé et de la Recherche Médicale U393, Hôpital des Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.; Perrault I; Gerber S; Hanein S; Barbet F; Ducroq D; Souied E; Munnich A; Kaplan J
Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Print ISSN: 0146-0404 (Print) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
Academic Journal
Souied EH; INSERM U-393, Hôpital des Enfants-Malades, Paris, France.; Ducroq D; Rozet JM; Gerber S; Perrault I; Munnich A; Coscas G; Soubrane G; Kaplan J
Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Print ISSN: 0146-0404 (Print) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
Academic Journal
Souied EH; Institut National de la Santé et de la Recherche Médicale U-393, Hôpital des Enfants-Malades, Paris, France.; Ducroq D; Rozet JM; Gerber S; Perrault I; Sterkers M; Benhamou N; Munnich A; Coscas G; Soubrane G; Kaplan J
Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited Medium: Print ISSN: 0146-0404 (Print) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE
Academic Journal
Perrault I; Service de Génétique Médicale et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital des Enfants-Malades, 149 rue de Sèvres, Paris Cedex 15, 75743, France.; Rozet JM; Gerber S; Ghazi I; Leowski C; Ducroq D; Souied E; Dufier JL; Munnich A; Kaplan J
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Print ISSN: 1096-7192 (Print) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Rozet JM; Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U393, Hôpital des Enfants Malades, 149 rue de Sèvres, Paris Cedex 15, 75743, France.; Gerber S; Souied E; Ducroq D; Perrault I; Ghazi I; Soubrane G; Coscas G; Dufier JL; Munnich A; Kaplan J
Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print Cited Medium: Print ISSN: 1096-7192 (Print) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Academic Journal
Souied EH; Clinique Ophtamologique Universitaire de Créteil, France.; Ducroq D; Gerber S; Ghazi I; Rozet JM; Perrault I; Munnich A; Dufier JL; Coscas G; Soubrane G; Kaplan J
Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print Cited Medium: Print ISSN: 0002-9394 (Print) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE
Academic Journal
Rozet JM; Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Paris, France.; Gerber S; Ghazi I; Perrault I; Ducroq D; Souied E; Cabot A; Dufier JL; Munnich A; Kaplan J
Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print Cited Medium: Print ISSN: 0022-2593 (Print) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Report
Perrault I; Rozet JM; Ghazi I; Leowski C; Bonnemaison M; Gerber S; Ducroq D; Cabot A; Souied E; Dufier JL; Munnich A; Kaplan J
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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[AR] Rozet, J M
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