학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
에서 검색결과 875건 | 목록
1~20
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
Academic Journal
Rendtorff ND; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. nanna.dahl.rendtorff@regionh.dk.; Karstensen HG; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Lodahl M; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Tolmie J; Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Glasgow, Scotland.; McWilliam C; Clinical Genetics, Human Genetics Unit, Ninewells Hospital, Dundee, Scotland.; Bak M; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Tommerup N; Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Nazaryan-Petersen L; Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen, Denmark.; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Kunst H; Department of Otorhinolaryngology, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Otorhinolaryngology, Maastricht University Medical Center, Maastricht, The Netherlands.; Wong M; Department of Allergy and Immunology, The Children's Hospital at Westmead, Sydney, Australia.; Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.; Carelli V; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, Bologna, Italy.; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; Tranebjærg L; Department of Clinical Genetics, Center of Diagnostics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. tranebjaerg@sund.ku.dk.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. tranebjaerg@sund.ku.dk.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE
Academic Journal
European Journal of Human Genetics. 11:S13-S48
Academic Journal
de Wert G; Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, CAPHRI Care and Public Health Research Institute, GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands. g.dewert@maastrichtuniversity.nl.; van El CG; Section Community Genetics, Department of Human Genetics, and Amsterdam Public Health research institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.; Clarke A; Division of Cancer and Genetics, Cardiff University School of Medicine, Cardiff, UK.; Cordier C; Sonic Suisse SA, Genesupport, Lausanne, Switzerland.; Fellmann F; FeelGood Onco, Clarens, Switzerland.; Genuardi M; Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Rome, Italy.; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Hentze S; Synlab, Practice for Human Genetics, Heidelberg, Germany.; Kayserili H; Koc University School of Medicine (KUSOM) Medical Genetics Department, Istanbul, Turkey.; Macek M; Motol University Hospital-2nd Faculty of Medicine, Charles University, Prague, Czechia.; MacLeod R; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Melegh B; University of Pécs, Pécs, Hungary.; Mendes Á; CGPP-Centre for Predictive and Preventive Genetics, IBMC - Institute for Molecular and Cell Biology, University of Porto, Porto, Portugal.; i3S-Institute for Research and Innovation in Health, University of Porto, Porto, Portugal.; Department of Diagnostics and Intervention-Oncology, Umeå University, Umeå, Sweden.; Rial-Sebbag E; CERPOP, Bioethics team, Inserm, Université de Toulouse, Toulouse, France.; Stefánsdóttir V; Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.; Tranebjærg L; The Kennedy Centre, Department of Clinical Genetics, University Hospital, Copenhagen, Denmark.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.; Ulph F; University of Manchester Division of Psychology & Mental Health, School of Health Sci, Manchester, UK.; Forzano F; Guy's and St Thomas' NHS Foundation Trust, London, UK.; Faculty of Life Sciences & Medicine, King's College London, London, 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
Janine Reurink; Nicole Weisschuh; Alejandro Garanto; Adrian Dockery; L. Ingeborgh van den Born; Isabelle Fajardy; Lonneke Haer-Wigman; Susanne Kohl; Bernd Wissinger; G. Jane Farrar; Tamar Ben-Yosef; Fatma Kivrak Pfiffner; Wolfgang Berger; Marianna E. Weener; Lubica Dudakova; Petra Liskova; Dror Sharon; Manar Salameh; Ashley Offenheim; Elise Heon; Giorgia Girotto; Paolo Gasparini; Anna Morgan; Arthur A. Bergen; Jacoline B. ten Brink; Caroline C.W. Klaver; Lisbeth Tranebjærg; Nanna D. Rendtorff; Sascha Vermeer; Jeroen J. Smits; Ronald J.E. Pennings; Marco Aben; Jaap Oostrik; Galuh D.N. Astuti; Jordi Corominas Galbany; Hester Y. Kroes; Milan Phan; Wendy A.G. van Zelst-Stams; Alberta A.H.J. Thiadens; Joke B.G.M. Verheij; Mary J. van Schooneveld; Suzanne E. de Bruijn; Catherina H.Z. Li; Carel B. Hoyng; Christian Gilissen; Lisenka E.L.M. Vissers; Frans P.M. Cremers; Hannie Kremer; Erwin van Wijk; Susanne Roosing
HGG Advances, Vol 4, Iss 2, Pp 100181- (2023)
Academic Journal
McTiernan, Nina; Tranebjærg, Lisbeth; Bjørheim, Anna S.; Hogue, Jacob S.; Wilson, William G.; Schmidt, Berkley; Boerrigter, Melissa M.; Nybo, Maja L.; Smeland, Marie F.; Tümer, Zeynep; Arnesen, Thomas
Human Genetics. :1-15
Academic Journal
Dondorp, W.; de Wert, G.; Bombard, Y.; Bianchi, D. W.; Bergmann, C.; Borry, P.; Chitty, L. S.; Fellmann, F.; Forzano, F.; Hall, A.; Henneman, L.; Howard, Heidi Carmen; Lucassen, A.; Ormond, K.; Peterlin, B.; Radojkovic, D.; Rogowski, W.; Soller, M.; Tibben, A.; Tranebjaerg, L.; van El, C. G.; Cornel, M. C.
European Journal of Human Genetics.
Academic Journal
Hem E; Legeforskningsinstituttet, og, Universitetet i Oslo.; Gjesdal KT; Universitetet i Oslo.; Tranebjærg L; Kennedy Centret, Rigshospitalet, og, Institut for klinisk medicin, Københavns universitet.; Nylenna M; Institutt for helse og samfunn, Universitetet i Oslo.
Publisher: Norske Laegeforening Country of Publication: Norway NLM ID: 0413423 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 0807-7096 (Electronic) Linking ISSN: 00292001 NLM ISO Abbreviation: Tidsskr Nor Laegeforen Subsets: MEDLINE
Academic Journal
JOURNAL OF BIOLOGICAL CHEMISTRY. 273(11):6163-6165
Academic Journal
Patergnani S; Department of Medical Sciences, Section of Experimental Medicine, Technopole of Ferrara, Laboratory for Advanced Therapies (LTTA), Ferrara, Italy.; Bataillard MS; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France.; Danese A; Department of Medical Sciences, Section of Experimental Medicine, Technopole of Ferrara, Laboratory for Advanced Therapies (LTTA), Ferrara, Italy.; Alves S; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France.; Cazevieille C; INM, University Montpellier,INSERM, Montpellier, France.; Valéro R; Department of Nutrition, Metabolic Diseases and Endocrinology, Aix Marseille Univ, APHM, INSERM, INRAE, C2VN, University Hospital La Conception, Marseille, France.; Tranebjærg L; The Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.; Maurice T; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France.; Pinton P; Department of Medical Sciences, Section of Experimental Medicine, Technopole of Ferrara, Laboratory for Advanced Therapies (LTTA), Ferrara, Italy.; Delprat B; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France.; Richard EM; MMDN, University Montpellier, EPHE, INSERM, Montpellier, France.
Publisher: Taylor & Francis Country of Publication: United States NLM ID: 101265188 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-8635 (Electronic) Linking ISSN: 15548627 NLM ISO Abbreviation: Autophagy Subsets: MEDLINE
Academic Journal
Ha AD; Movement Disorders Unit, Department of Neurology, Westmead Hospital, Sydney, NSW 2145, Australia.; Parratt KL; Rendtorff ND; Lodahl M; Ng K; Rowe DB; Sue CM; Hayes MW; Tranebjaerg L; Fung VS
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Conference
Martins, S; Costa, IPD; Giunti, P; Watanabe, M; Sasaki, H; Almeida, BC; Amorim, A; Gaspar, C; Nicholson, G; Saraiva-Pereira, ML; Tsuji, S; Li, Q; Chen, S; Landoure, G; Maciel, P; Zaltzman, R; Sharony, R; Zhou, Y; Barros, J; Loureiro, JL; Cruz, VT; Ruano, L; Brunt, ERP; Corral-Juan, MM; Hsieh, M; Tranebjaerg, L; Olajumoke, O; Ogun, SA; Finkel, MF; Gordon, C; Cornejo-Olivas, M; Fischbeck, K; Matilla-Duenas, A; Volpini, V; Riess, O; Wu, Z; Rouleau, GA; Jardim, LB; Stevanin, G; Brice, A; Coutinho, P; Soong, B; Ranum, LP; Durr, A; Sequeiros, J
European Journal of Human Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
instname
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
instname
HARS2 sequence variants identified in young individuals with severe sensorineural hearing impairment
Conference
Karstensen, H.; Rendtorff, N.; Hindhede, L.; Stein, A.; Hartmann-Petersen, R.; Lindorff-Larsen, K.; Hojland, A.; Petersen, M.; Tranebjaerg, L.
Karstensen, H, Rendtorff, N, Hindhede, L , Stein, A, Hartmann-Petersen, R, Lindorff-Larsen, K, Hojland, A, Petersen, M & Tranebjaerg , L 2019, 'HARS2 sequence variants identified in young individuals with severe sensorineural hearing impairment', European Journal of Human Genetics, vol. 27, no. Suppl. 1, P02.18A, pp. 50-51. < https://www.nature.com/articles/s41431-019-0404-7 >
Karstensen, H, Rendtorff, N, Hindhede,L , Stein, A, Hartmann-Petersen, R, Lindorff-Larsen, K, Hojland, A, Petersen, M & Tranebjaerg , L 2019, ' HARS2 sequence variants identified in young individuals with severe sensorineural hearing impairment ', European Journal of Human Genetics, vol. 27, no. Suppl. 1, P02.18A, pp. 50-51 . < https://www.nature.com/articles/s41431-019-0404-7 >
Karstensen, H, Rendtorff, N, Hindhede,
Academic Journal
Pelleri M. C.; Cicchini E.; Petersen M. B.; Tranebjaerg L.; Mattina T.; Magini P.; Antonaros F.; Caracausi M.; Vitale L.; Locatelli C.; Seri M.; Strippoli P.; Piovesan A.; Cocchi G.
Mol Genet Genomic Med
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Pelleri, M C, Cicchini, E, Petersen, M B,Tranebjaerg , L , Mattina, T, Magini, P, Antonaros, F, Caracausi, M, Vitale, L , Locatelli, C, Seri, M, Strippoli, P, Piovesan, A & Cocchi, G 2019, 'Partial trisomy 21 map : Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21', Molecular Genetics & Genomic Medicine, vol. 7, no. 8, e797. https://doi.org/10.1002/mgg3.797
Pelleri, M C, Cicchini, E, Petersen, M B,Tranebjaerg , L , Mattina, T, Magini, P, Antonaros, F, Caracausi, M, Vitale, L , Locatelli, C, Seri, M, Strippoli, P, Piovesan, A & Cocchi, G 2019, 'Partial trisomy 21 map : ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21', European Journal of Human Genetics, vol. 27, no. Suppl. 1, P13.15C, pp. 484-485. < https://www.nature.com/articles/s41431-019-0404-7 >
Pelleri, M C, Cicchini, E, Petersen, M B,Tranebjaerg , L , Mattina, T, Magini, P, Antonaros, F, Caracausi, M, Vitale, L , Locatelli, C, Seri, M, Strippoli, P, Piovesan, A & Cocchi, G 2019, ' Partial trisomy 21 map : ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 ', European Journal of Human Genetics, vol. 27, no. Suppl. 1, P13.15C, pp. 484-485 . < https://www.nature.com/articles/s41431-019-0404-7 >
Pelleri, M C, Cicchini, E, Petersen, M B, Tranebjærg,L , Mattina, T, Magini, P, Antonaros, F, Caracausi, M, Vitale, L , Locatelli, C, Seri, M, Strippoli, P, Piovesan, A & Cocchi, G 2019, ' Partial trisomy 21 map : Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21 ', Molecular Genetics & Genomic Medicine, vol. 7, e797 . https://doi.org/10.1002/mgg3.797
Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019)
Pelleri, M C, Cicchini, E, Petersen, M B,
Pelleri, M C, Cicchini, E, Petersen, M B,
Pelleri, M C, Cicchini, E, Petersen, M B,
Pelleri, M C, Cicchini, E, Petersen, M B, Tranebjærg,
Academic Journal
Hartel, B. P.; Löfgren, M.; Huygen, P. L. M.; Guchelaar, I.; Lo-A-Njoe Kort, N.; Sadeghi, André M.; van Wijk, E.; Tranebjærg, L.; Kremer, H.; Kimberling, W. J.; Cremers, C. W. R. J.; Möller, C.; Pennings, R. J. E.
Hearing Research. 339:60-68
Academic Journal
Husu, E, Hove, H, Farholt, S, Bille, M, Tranebjaerg , L , Vogel, I & Kreiborg, S 2012, 'Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome', Clinical Genetics, vol. 83, no. 2, pp. 125-134. https://doi.org/10.1111/j.1399-0004.2012.01884.x
Academic Journal
Bahmad F Jr; Merchant SN; Nadol JB Jr; Tranebjaerg L; Bahmad, Fayez Jr; Merchant, Saumil N; Nadol, Joseph B Jr; Tranebjaerg, Lisbth
Academic Journal
Severin, F.; Borry, P.; Cornel, M. C.; Daniels, N.; Fellmann, F.; Victoria Hodgson, S.; Howard, H. C.; John, J.; Kaariainen, H.; Kayserili, H.; Kent, A.; Koerber, F.; Kristoffersson, U.; Kroese, M.; Lewis, C.; Marckmann, G.; Meyer, P.; Pfeufer, A.; Schmidtke, J.; Skirton, H.; Tranebjaerg, L.; Rogowski, W. H.; EuroGentest, committee; Eshg Pppc Priority, Consortium
Eur J Hum Genet. 23(6):729-35
Academic Journal
Academic Journal
Teek, R ; Kruustük, K ; Žordania, R ; Joost, K ; Kahre, T ; Tõnisson, N ; Nelis, M ; Zilina, O ; Tranebjaerg, L ; Reimand, T ; Õunap, K
In Advances in Medical Sciences 1 December 2013 58(2):419-428
검색 결과 제한하기
제한된 항목
[검색어] Tranebjærg, L.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어