학술논문


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'학술논문' 에서 검색결과 1,186건 | 목록 1~20
Academic Journal
Sébastien KüryJanelle E. StantonGeeske M. van WoerdenAmélie Bosc-RosatiTzung-Chien HsiehLise BrayMarielle OloudéCory RosenfeltMarie Pier Scott-BoyerVictoria MostTianyun WangJonas J. PapendorfCharlotte de KoninkWallid DebVirginie VignardMaja Studencka-TurskiThomas BesnardAnna M. HajdukowiczFranziska G. ThielSophie WolfgrammLaëtitia FlorenceauSilvestre CuinatSylvain MarsacYann VerrèsAudrey DangoumauLéa PoirierIngrid M. WentzensenAnnabelle TuttleCara ForsterJohanna StriesowRichard GolnikDamara OrtizLaura JenkinsJill A. RosenfeldAlban ZieglerClara HoudayerDominique BonneauErin TortiAmber BegtrupKristin G. MonaghanSureni V. MullegamaCatharina M. L. Nienke Volker-TouwKoen L. I. van GassenRenske OegemaMirjam S. de PagterKatharina SteindlAnita RauchIvan IvanovskiKimberly McDonaldEmily BootheAndrew DauberJanice BakerNoelle Andrea V. FabieRaphael A. BernierTychele N. TurnerSiddharth SrivastavaKira A. DiesLindsay C. SwansonCarrie CostinAlali AbdulrazakRebekah K. JoblingJohn PappasRachel RabinDmitriy NiyazovAnne Chun-Hui TsaiKaren KovakDavid B. BeckMay Christine V. MalicdanDavid R. AdamsLynne WolfeRebecca D. GanetzkyColleen C. MurareskuDavit BabikyanZdeněk SedláčekMiroslava HančárováAndrew T. TimberlakeHind Al SaifBerkley NestlerKayla KingMJ HajianpourGregory CostainD’Arcy PrendergastChumei LiDavid GenevièveAntonio VitobelloArthur SorlinChristophe PhilippeTamar HarelOri TokerAtaf SabirDerek LimMark J. HamiltonLisa J. BrysonElaine ClearySacha WeberTrevor L. HoffmanAnna M. Cueto-GonzálezEduardo F. TizzanoDavid Gómez-AndrésMarta Codina-SolàAthina VerveriEfterpi PavlidouAlexandros LambropoulosKyriakos GarganisMarlène RioJonathan LevySarah J. LangasAnne M. McRaeMathieu K. LessardMaria Daniela D’AgostinoIsabelle De BieMeret WeglerRami Abou JamraSusanne B. KamphausenViktoria BotheLorraine PotockiEric OlingerYves SznajerElsa WiameMichelle L. ThompsonMolly C. SchroederCatherine GoochRaphael A. SmithArti PandyaLarissa M. BuschUwe VölkerElke HammerKristian WendeBenjamin CognéBertrand IsidorJens MeilerClémentine RipollStéphanie BigouFrédéric LaumonnierPeter W. HildebrandEvan E. EichlerKirsty McWalterPeter M. KrawitzFlorence Roux-DalvaiYpe ElgersmaJulien MarcouxMarie-Pierre BousquetArnaud DroitJeremie PoschmannAndreas M. GrabruckerFrancois V. BolducStéphane BézieauFrédéric EbsteinElke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
IEEE Open Journal of the Industrial Electronics Society IEEE Open J. Ind. Electron. Soc. Industrial Electronics Society, IEEE Open Journal of the. 5:928-945 2024
Conference
2023 46th MIPRO ICT and Electronics Convention (MIPRO) ICT and Electronics Convention (MIPRO), 2023 46th MIPRO. :275-279 May, 2023
Academic Journal
Uhrova Meszarosova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Galiart E; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Lassuthova P; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Kolokotronis K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Seidl B; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Musilova A; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Peckova A; Department of Medical Genetics, Masaryk Hospital, Ústí nad Labem, Czechia.; Takacsova A; Department of Medical Genetics and Genomics, Faculty Hospital, Brno, Czechia.; Vyhnalkova E; Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.; Grecmalova D; Institute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava and Institute of Laboratory Medicine, Medical Faculty, Ostrava, Czechia.; Vlckova E; Department of Neurology, Masaryk University and University Hospital Brno, Brno, Czechia.; Skutilova V; Department of Molecular Biology, Faculty Hospital Hradec Kralove, Hradec Kralove, Czechia.; Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Switzerland.; Stettner GM; Neuromuscular Center Zurich and Department of Paediatric Neurology, University Children's Hospital Zurich, University of Zurich, Zurich, Switzerland.; Safka Brozkova D; Neurogenetic Laboratory, Department of Paediatric Neurology, Second Faculty of Medicine Charles University and University Hospital Motol, Prague, Czechia.
Publisher: Frontiers Media S.A Country of Publication: Switzerland NLM ID: 101648047 Publication Model: eCollection Cited Medium: Print ISSN: 2296-858X (Print) Linking ISSN: 2296858X NLM ISO Abbreviation: Front Med (Lausanne) Subsets: PubMed not MEDLINE
Review
Zeitschrift für Nationalökonomie / Journal of Economics, 1981 Jan 01. 41(3/4), 389-392.
Academic Journal
Radio F. C.Pang K.Ciolfi A.Levy M. A.Hernandez-Garcia A.Pedace L.Pantaleoni F.Liu Z.de Boer E.Jackson A.Bruselles A.McConkey H.Stellacci E.Lo Cicero S.Motta M.Carrozzo R.Dentici M. L.McWalter K.Desai M.Monaghan K. G.Telegrafi A.Philippe C.Vitobello A.Au M.Grand K.Sanchez-Lara P. A.Baez J.Lindstrom K.Kulch P.Sebastian J.Madan-Khetarpal S.Roadhouse C.MacKenzie J. J.Monteleone B.Saunders C. J.Jean Cuevas J. K.Cross L.Zhou D.Hartley T.Sawyer S. L.Monteiro F. P.Secches T. V.Kok F.Schultz-Rogers L. E.Macke E. L.Morava E.Klee E. W.Kemppainen J.Iascone M.Selicorni A.Tenconi R.Amor D. J.Pais L.Gallacher L.Turnpenny P. D.Stals K.Ellard S.Cabet S.Lesca G.Pascal J.Steindl K.Ravid S.Weiss K.Castle A. M. R.Carter M. T.Kalsner L.de Vries B. B. A.van Bon B. W.Wevers M. R.Pfundt R.Stegmann A. P. A.Kerr B.Kingston H. M.Chandler K. E.Sheehan W.Elias A. F.Shinde D. N.Towne M. C.Robin N. H.Goodloe D.Vanderver A.Sherbini O.Bluske K.Hagelstrom R. T.Zanus C.Faletra F.Musante L.Kurtz-Nelson E. C.Earl R. K.Anderlid B. -M.Morin G.van Slegtenhorst M.Diderich K. E. M.Brooks A. S.Gribnau J.Boers R. G.Finestra T. R.Carter L. B.Rauch A.Gasparini P.Boycott K. M.Barakat T. S.Graham J. M.Faivre L.Banka S.Wang T.Eichler E. E.Priolo M.Dallapiccola B.Vissers L. E. L. M.Sadikovic B.Scott D. A.Holder J. L.Tartaglia M.
American Journal of Human Genetics, 108, 3, pp. 502-516
SPEN study group 2021, 'SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females', American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2021.01.015
Academic Journal
IEEE Transactions on Electron Devices IEEE Trans. Electron Devices Electron Devices, IEEE Transactions on. 66(1):497-504 Jan, 2019
Review
Zeitschrift für die gesamte Staatswissenschaft / Journal of Institutional and Theoretical Economics, 1980 Dec 01. 136(4), 758-760.
Academic Journal
Chacon-Millan P; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Delicato A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Mahmood A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Environmental, Biological and Pharmaceutical Sciences and Technologies (DiStaBiF), University of Campania 'Luigi Vanvitelli,' Caserta, Italy.; Tirozzi A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Medical Genetics Unit, Department of General and Emergency Pediatrics, AORN Santobono-Pausilipon, Naples, Italy.; Monfregola J; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy.; Duroure K; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Serafini M; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Kroll F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; El-Hage O; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France.; Salah S; Palestine Red Crescent Society Hospital, Hebron, Palestine.; Atawneh OM; Palestine Red Crescent Society Hospital, Hebron, Palestine.; Atik T; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Durmusalioglu EA; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Isik E; Department of Pediatric Genetics, School of Medicine, Ege University, Izmir, Turkey.; Almontashiri NAM; Center for Genetics and Inherited Diseases (CGID), Taibah University, Madinah, Al Madinah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Tabarki B; Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh 11159, Saudi Arabia.; Kanaan M; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.; Rabie G; Hereditary Research Laboratory and Department of Life Sciences, Bethlehem University, Bethlehem, Palestine.; Torella A; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Spampanato C; University Hospital 'Luigi Vanvitelli,' Naples, Italy.; Battaglia DI; Child Neurology Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.; Begemann A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Steindl K; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Rauch A; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Zweier M; University of Zurich, Institute of Medical Genetics, Schlieren, Switzerland.; Hajianpour M; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Med Health System, Albany Medical College, Albany, NY 12208, USA.; Brigatti KW; Clinic for Special Children, Gordonville, PA 17529, USA.; Alhashem A; Department of Genetic and Metabolic, King Fahad Specialist Hospital, Dammam, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; Department of Genetic, Seha Virtual Hospital, Riyadh, Saudi Arabia.; Maroofian R; University College London, Institute of Neurology Queen Square, London, UK.; Feigerlova E; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Lambert L; Department of Clinical Genetics, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Feillet F; Department of Pediatrics, Reference Center for Inborn Errors of Metabolism, Filière G2M, University Hospital of Nancy, INSERM UMR_S 1256, NGERE, University of Lorraine, Nancy, France.; Abbott MA; Baystate Medical Center, Springfield, MA, USA.; D'Alessio AM; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy.; Gonzaga-Jauregui C; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Querétaro 76230, Mexico.; Tawk M; Université Paris-Saclay, Hôpital Kremlin Bicêtre, U1195, Inserm, 94276 Le Kremlin Bicêtre, France.; De Matteis MA; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Del Bene F; Sorbonne Université, INSERM U968, CNRS UMR 7210, Institut de la Vision, Paris, France.; Zollino M; Università Cattolica del Sacro Cuore, Rome, Italy; Medical Genetics Unit, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Nigro V; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy.; Venditti R; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II,' Medical School, Naples, Italy.; Franco B; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Translational Medicine, University of Naples 'Federico II,' Naples, Italy; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, Naples, Italy.; Morleo M; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy. Electronic address: morleo@tigem.it.
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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[검색어] Steindl, K
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