학술논문
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'학술논문'
에서 검색결과 164건 | 목록
1~20
Academic Journal
Unger, S; Ferreira, CR; Mortier, GR; Ali, H; Bertola, DR; Calder, A; Cohn, DH; Cormier-Daire, V; Girisha, KM; Hall, C
AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 191(5):1164-1209
Academic Journal
Terhal PA; Nievelstein RJ; Verver EJ; Topsakal V; van Dommelen P; Hoornaert K; Le Merrer M; Zankl A; Simon ME; Smithson SF; Marcelis C; Kerr B; Clayton-Smith J; Kinning E; Mansour S; Elmslie F; Goodwin L; van der Hout AH; Veenstra-Knol HE; Herkert JC; Lund AM; Hennekam RC; Mégarbané A; Lees MM; Wilson LC; Male A; Hurst J; Alanay Y; Annerén G; Betz RC; Bongers EM; Cormier-Daire V; Dieux A; David A; Elting MW; van den Ende J; Green A; van Hagen JM; Hertel NT; Holder-Espinasse M; den Hollander N; Homfray T; Hove HD; Price S; Raas-Rothschild A; Rohrbach M; Schroeter B; Suri M; Thompson EM; Tobias ES; Toutain A; Vreeburg M; Wakeling E; Knoers NV; Coucke P; Mortier GR
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Megarbane, A, Lees, M M, Wilson, L C, Korteland-van Male, A, Hurst, J, Alanay, Y, Anneren, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P & Mortier , G R 2015, 'A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype', American Journal of Medical Genetics Part A, vol. 167, no. 3, pp. 461-475. https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics. Part A, 167A, 3, pp. 461-75
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Mégarbané, A, Lees, M M, Wilson, L C, Male, A, Hurst, J, Alanay, Y, Annerén, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P &Mortier , G R 2015, ' A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype ', American Journal of Medical Genetics. Part A, vol. 167, no. 3, pp. 461-475 . https://doi.org/10.1002/ajmg.a.36922
American Journal of Medical Genetics Part A, 167(3), pp. 1-15.
American Journal of Medical Genetics. Part A, 167A, 3, pp. 461-75
Terhal, P A, Nievelstein, R J A J, Verver, E J J, Topsakal, V, van Dommelen, P, Hoornaert, K, Le Merrer, M, Zankl, A, Simon, M E H, Smithson, S F, Marcelis, C, Kerr, B, Clayton-Smith, J, Kinning, E, Mansour, S, Elmslie, F, Goodwin, L, van der Hout, A H, Veenstra-Knol, H E, Herkert, J C, Lund, A M, Hennekam, R C M, Mégarbané, A, Lees, M M, Wilson, L C, Male, A, Hurst, J, Alanay, Y, Annerén, G, Betz, R C, Bongers, E M H F, Cormier-Daire, V, Dieux, A, David, A, Elting, M W, van den Ende, J, Green, A, van Hagen, J M, Hertel, N T, Holder-Espinasse, M, den Hollander, N, Homfray, T, Hove, H D, Price, S, Raas-Rothschild, A, Rohrbach, M, Schroeter, B, Suri, M, Thompson, E M, Tobias, E S, Toutain, A, Vreeburg, M, Wakeling, E, Knoers, N V, Coucke, P &
American Journal of Medical Genetics Part A, 167(3), pp. 1-15.
Academic Journal
Jackson GC; Barker FS; Jakkula E; Czarny-Ratajczak M; Makitie O; Cole WG; Wright MJ; Smithson SF; Suri M; Rogala P; Mortier GR; Baldock C; Wallace A; Elles R; Ala-Kokko L; Briggs MD
Jackson, G, Barker, FS, Jakkula, E, Czamy-Ratajczak, M, Makitie, O, Cole, WG, Wright, MJ, Smithson, SF, Suri, M, Rogala, P, Mortier , GR , Baldock, C, Wallace, A, Elles, R, Ala-Kokko, L & Briggs, M 2004, 'Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.', Journal of Medical Genetics, vol. 41, no. 1, pp. 52-59. https://doi.org/10.1136/jmg.2003.011429
Academic Journal
Makitie O; Mortier GR; Czarny-Ratajczak M; Wright MJ; Suri M; Rogala P; Freund M; Jackson GC; Jakkula E; Ala-Kokko L; Briggs MD; Cole WG
Mäkitie, O, Mortier , G R, Czarny-Ratajczak, M, Wright, M J, Suri, M, Rogala, P, Freund, M, Jackson, G C, Jakkula, E, Ala-Kokko, L, Briggs, M D & Cole, W G 2004, 'Clinical and Radiographic Findings in Multiple Epiphyseal Dysplasia Caused by MATN3 Mutations: Description of 12 Patients', American Journal of Medical Genetics. Part A, vol. 125, no. 3, pp. 278-284. https://doi.org/10.1002/ajmg.a.20486
Academic Journal
The American Journal of Human Genetics. 72:1040-1046
Academic Journal
Journal of Medical Genetics. 40:201-207
Academic Journal
null VAN CALENBERGH F; null SCHOENAERS J; null SCHUTYSER F; null CASAER P; null MORTIER GR; null FRIJNS JP
Tijdschrift voor Geneeskunde. 58:461-465
Academic Journal
Chapman, K L, Mortier , G R, Chapman, K, Loughlin, J, Grant, M E & Briggs, M D 2001, 'Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia', Nature Genetics, vol. 28, no. 4, pp. 393-396. https://doi.org/10.1038/ng573
Academic Journal
Tijdschrift voor Geneeskunde. 56:484-489
Academic Journal
The American Journal of Human Genetics. 65:31-38
Academic Journal
Holling T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Bhavani GS; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, India.; von Elsner L; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Shah H; Department of Orthopedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.; Kausthubham N; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, India.; Bhattacharyya SS; Department of Pediatrics, Manipal Hospital, Bengaluru, India.; Shukla A; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, India.; Mortier GR; Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.; Schinke T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Danyukova T; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Pohl S; Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Kutsche K; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Girisha KM; Department of Medical Genetics, Kasturba Medical College Manipal, Manipal Academy of Higher Education, Manipal, India.
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
Laurent MR; Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.; De Schepper J; Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.; Trouet D; Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.; Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.; Godefroid N; Pediatric Nephrology, Cliniques Universitaires St. Luc (UCL), Brussels, Belgium.; Boros E; Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.; Heinrichs C; Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.; Bravenboer B; Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Velkeniers B; Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Lammens J; Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven, Belgium.; Harvengt P; XLH Belgium, Belgian XLH patient association, Waterloo, Belgium.; Cavalier E; Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège, Belgium.; Kaux JF; Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège, Belgium.; Lombet J; Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège, Belgium.; De Waele K; Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.; Verroken C; Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent, Belgium.; van Hoeck K; Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.; Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.; Mortier GR; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.; Levtchenko E; Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.; Vande Walle J; Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.
Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: PubMed not MEDLINE; MEDLINE
Academic Journal
Laurent MR; Centre for Metabolic Bone Diseases, University Hospitals Leuven, Leuven, Belgium.; De Schepper J; Division of Pediatric Endocrinology, KidZ Health Castle, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.; Trouet D; Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.; Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.; Godefroid N; Pediatric Nephrology, Cliniques Universitaires St. Luc (UCL), Brussels, Belgium.; Boros E; Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.; Heinrichs C; Paediatric Endocrinology Unit, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium.; Bravenboer B; Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Velkeniers B; Department of Endocrinology, University Hospital Brussels, Vrije Universiteit Brussel (VUB), Brussels, Belgium.; Lammens J; Department of Orthopaedic Surgery and Department of Development and Regeneration, Prometheus LRD Division of Skeletal Tissue Engineering, KU Leuven - University Hospitals Leuven, Leuven, Belgium.; Harvengt P; XLH Belgium, Belgian X-Linked Hypophosphatemic Rickets (XLH) Patient Association, Waterloo, Belgium.; Cavalier E; Department of Clinical Chemistry, University Hospital Center of Liège, University of Liège, Liège, Belgium.; Kaux JF; Physical Medicine, Rehabilitation and Sports Traumatology, University and University Hospital of Liège, Liège, Belgium.; Lombet J; Division of Nephrology, Department of Pediatrics, University Hospital Center of Liège, Liège, Belgium.; De Waele K; Department of Pediatric Endocrinology, University Hospital Ghent, Ghent, Belgium.; Verroken C; Unit for Osteoporosis and Metabolic Bone Diseases, Department of Endocrinology and Metabolism, Ghent University Hospital, Ghent, Belgium.; van Hoeck K; Department of Pediatric Nephrology, Antwerp University Hospital, Antwerp, Belgium.; Laboratory of Experimental Medicine and Pediatrics, University of Antwerp, Antwerp, Belgium.; Mortier GR; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Antwerp, Belgium.; Levtchenko E; Department of Pediatrics/Pediatric Nephrology, University Hospitals Leuven, Leuven, Belgium.; Vande Walle J; Department of Pediatric Nephrology, University Hospital Ghent, Ghent, Belgium.
Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE
Academic Journal
Kennedy J; Jackson GC; Barker FS; Nundlall S; Bella J; Wright MJ; Mortier GR; Neas K; Thompson E; Elles R; Briggs MD
Human Mutation. 25:593-594
Academic Journal
Freckelton, AV; Mortier, A; Bedell, M; Morrell, S; Naylor, T; Buchhave, LA; Davies, GR; González Hernández, JI; Klein, B; de Mooij, EJW; Passegger, VM; Quirrenbach, A; Roy, A; Santos, NC; Sousa, SG; Suárez Mascareño, A; Tsantaki, M; Zhao, LL
Monthly Notices of the Royal Astronomical Society
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[검색어] Mortier, GR
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