학술논문
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'학술논문'
에서 검색결과 9건 | 목록
1~20
Academic Journal
Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Baric, I; Bubshait, DK
ANNALS OF NEUROLOGY. 82(6):1004-1015
Academic Journal
Wortmann, SB; Chen, MA; Colombo, R; Pontoglio, A; Alhaddad, B; Botto, LD; Yuzyuk, T; Coughlin, CR; Descartes, M; Grűnewald, S; Maranda, B; Mills, PB; Pitt, J; Potente, C; Rodenburg, R; Kluijtmans, LAJ; Sampath, S; Pai, EF; Wevers, RA; Tiller, GE; Kyriss, MNM; Reid, ES; Thomas, JA; Waters, PJ; White, SM
J Inherit Metab Dis
Journal of Inherited Metabolic Disease, 40, 3, pp. 423-431
J. Inherit. Metab. Dis. 40, 423-431 (2017)
Journal of Inherited Metabolic Disease, 40, 3, pp. 423-431
J. Inherit. Metab. Dis. 40, 423-431 (2017)
Genetti, CA; Pinelli, M; Brunetti-Pierri, N; Garza-Flores, A; Jackson, Adam; Shahani, D; Saneto, RP; Zampino, G; Leoni, C; Agolini, E; Novelli, A; Haack, BUBTB; Heinritz, W; Matzker, E; Alhaddad, B; Abou Jamra, R; Bartolomaeus, T; AlHamdan, S; Carapito, R; Isidor, B; Bahram, S; Ritter, A; Izumi, K; Shakked, B; Barel, O; Ben Zeev, B; Begtrup, A; Carere, DA; Mullegama, SV; Palculict, TB; Calame, DG; Schwan, K; Aycinena, ARP; Traberg, R; Douzgou, S; Pirt, H; Banka, S; Chao, HT
Genomics England Research Consortium, Genetti, CA, Pinelli, M, Brunetti-Pierri, N, Garza-Flores, A, Jackson, A, Shahani, D, Saneto, RP, Zampino, G, Leoni, C, Agolini, E, Novelli, A, Haack, BUBTB, Heinritz, W, Matzker, E, Alhaddad, B , Abou Jamra, R, Bartolomaeus, T, AlHamdan, S, Carapito, R, Isidor, B, Bahram, S, Ritter, A, Izumi, K, Shakked, B, Barel, O, Ben Zeev, B, Begtrup, A, Carere, DA, Mullegama, SV, Palculict, TB, Calame, DG, Schwan, K, Aycinena, ARP, Traberg, R, Douzgou, S, Pirt, H, Banka, S & Chao, HT 2023, 'Erratum : Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy (The American Journal of Human Genetics (2023) 110(1) (120–145), (S000292972200502X), (10.1016/j.ajhg.2022.11.011))', American Journal of Human Genetics, vol. 110, no. 3, pp. 548. https://doi.org/10.1016/j.ajhg.2023.02.010
Academic Journal
European Journal of Hospital Pharmacy. 23:156-160
Academic Journal
Braunisch MC; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Department of Nephrology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Gallwitz H; Department of Pediatrics, Socio-Pediatric Center, Klinikum Memmingen, Memmingen, Germany.; Abicht A; Medical Genetics Center, Munich, Germany.; Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Klinikum der Universität München, Munich, Germany.; Diebold I; Medical Genetics Center, Munich, Germany.; Holinski-Feder E; Medical Genetics Center, Munich, Germany.; Medizinische Klinik und Poliklinik IV, Campus Innenstadt, Klinikum der Universität München, Munich, Germany.; Van Maldergem L; Center for Human Genetics, University of Franche-Comté, Besançon, France.; Lammens M; Department of Pathology, Antwerp University Hospital, Edegem, Belgium.; Department of Neuropathology, Born Bunge Institute, Antwerp University, Wilrijk, Belgium.; Kovács-Nagy R; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Alhaddad B; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Meitinger T; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Senderek J; Friedrich-Baur-Institut, Neurologische Klinik und Poliklinik, Klinikum der Universität München, Munich, Germany.; Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Institut für Humangenetik, Uniklinik RWTH Aachen, Aachen, Germany.; Haack TB; Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet
Report
Bublitz SK; Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.; Alhaddad B; Institute of Human Genetics, Technische Universität München, München, Germany.; Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Kuhl V; Department of Neurology, Marienhospital Stuttgart, Stuttgart, Germany.; Lindner A; Department of Neurology, Marienhospital Stuttgart, Stuttgart, Germany.; Freiberg C; Department of Pediatrics, Universitätsmedizin Göttingen, Göttingen, Germany.; Schmidt H; Division of Pediatric Endocrinology, University Children's Hospital, Ludwig-Maximilian University, Munich, Germany.; Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Haack TB; Institute of Human Genetics, Technische Universität München, München, Germany.; Deschauer M; Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Alhaddad B; Semmelweis University of Medicine Faculty of Dentistry, Department of Pedodontics and Orthodontics, Budapest, Hungary.; Rózsa NK; Semmelweis University of Medicine Faculty of Dentistry, Department of Pedodontics and Orthodontics, Budapest, Hungary.; Tarján I; Semmelweis University of Medicine Faculty of Dentistry, Department of Pedodontics and Orthodontics, Budapest, Hungary.
Publisher: Ariesdue Country of Publication: Italy NLM ID: 101121881 Publication Model: Print Cited Medium: Internet ISSN: 2035-648X (Electronic) Linking ISSN: 1591996X NLM ISO Abbreviation: Eur J Paediatr Dent Subsets: MEDLINE
Academic Journal
Vill K; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.; Blaschek A; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.; Gläser D; genetikum® Center for Human Genetics, Neu-Ulm, Germany.; Kuhn M; genetikum® Center for Human Genetics, Neu-Ulm, Germany.; Haack T; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, University of Tübingen, Germany.; Alhaddad B; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Wagner M; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute für Neurogenomik, Helmholtz Zentrum München, Neuherberg, Germany.; Kovacs-Nagy R; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Tacke M; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.; Gerstl L; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.; Schroeder AS; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.; Mueller C; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.; Schlotter-Weigel B; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-Universität, München, Munich, Germany.; Schoser B; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-Universität, München, Munich, Germany.; Walter MC; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-Universität, München, Munich, Germany.; Müller-Felber W; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Center for Neuromuscular Disorders in Childhood. Dr. von Hauner Children's Hospital, University Hospital, LMU Munich, Germany.
Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Print ISSN: 2214-3599 (Print) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE
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[AR] Alhaddad, B
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