학술논문


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'학술논문' 에서 검색결과 303건 | 목록 1~20
Academic Journal
Banks, EmilyFrancis, VincentLin, Sheng-JiaKharfallah, FaresFonov, VladimirLévesque, MaximeHan, ChanshuaiKulasekaran, GopinathTuznik, MariusBayati, ArminAl-Khater, ReemAlkuraya, Fowzan S.Argyriou, LoukasBabaei, MeisamBahlo, MelanieBakhshoodeh, BehnooshBarr, EileenBartik, LaurenBassiony, MahmoudBertrand, MiriamBraun, DominiqueBuchert, RebeccaBudetta, MauroCadieux-Dion, MaximeCalame, Daniel G.Cope, HeidiCushing, DonnaEfthymiou, StephanieElmaksoud, Marwa AbdEl Said, Huda G.Froukh, TawfiqGill, Harinder K.Gleeson, Joseph G.Gogoll, LauraGoh, Elaine S.-Y.Gowda, Vykuntaraju K.Haack, Tobias B.Hashem, Mais O.Hauser, StefanHoffman, Trevor L.Hogue, Jacob S.Hosokawa, AkimotoHoulden, HenryHuang, KevinHuynh, StephanieKarimiani, Ehsan G.Kaulfuß, SilkeKorenke, G. ChristophKritzer, AmyLee, HaneLupski, James R.Marco, Elysa J.McWalter, KirstyMinassian, ArakelMinassian, Berge A.Murphy, DavidNeira-Fresneda, JuanitaNorthrup, HopeNyaga, Denis M.Oehl-Jaschkowitz, BarbaraOsmond, MatthewPerson, RichardPehlivan, DavutPetree, CassidySadleir, Lynette G.Saunders, CarolSchoels, LudgerShashi, VandanaSpillmann, Rebecca C.Srinivasan, Varunvenkat M.Torbati, Paria N.Tos, TulayZaki, Maha S.Zhou, DihongZweier, ChristianeTrempe, Jean-FrançoisDurcan, Thomas M.Gan-Or, ZivAvoli, MassimoAlves, CesarVarshney, Gaurav K.Maroofian, RezaRudko, David A.McPherson, Peter S.
Nature Communications. 15(1)
Academic Journal
Ambrose, J.C.Arumugam, P.Bevers, R.Bleda, M.Boardman-Pretty, F.Boustred, C.R.Brittain, H.Brown, M.A.Caulfield, M.J.Chan, G.C.Giess, A.Griffin, J.N.Hamblin, A.Henderson, S.Hubbard, T.J.P.Jackson, R.Jones, L.J.Kasperaviciute, D.Kayikci, M.Kousathanas, A.Lahnstein, L.Lakey, A.Leigh, S.E.A.Leong, I.U.S.Lopez, F.J.Maleady-Crowe, F.McEntagart, M.Minneci, F.Mitchell, J.Moutsianas, L.Mueller, M.Murugaesu, N.Need, A.C.O‘Donovan, P.Odhams, C.A.Patch, C.Perez-Gil, D.Pereira, M.B.Pullinger, J.Rahim, T.Rendon, A.Rogers, T.Savage, K.Sawant, K.Scott, R.H.Siddiq, A.Sieghart, A.Smith, S.C.Sosinsky, A.Stuckey, A.Tanguy, M.Taylor Tavares, A.L.Thomas, E.R.A.Thompson, S.R.Tucci, A.Welland, M.J.Williams, E.Witkowska, K.Wood, S.M.Zarowiecki, M.Riess, OlafHaack, Tobias B.Graessner, HolmZurek, BirteEllwanger, KorneliaOssowski, StephanDemidov, GermanSturm, MarcSchulze-Hentrich, Julia M.Schüle, RebeccaKessler, ChristophWayand, MelanieSynofzik, MatthisWilke, CarloTraschütz, AndreasSchöls, LudgerHengel, HolgerHeutink, PeterBrunner, HanScheffer, HansHoogerbrugge, NicolineHoischen, Alexander’t Hoen, Peter A.C.Vissers, Lisenka E.L.M.Gilissen, ChristianSteyaert, WouterSablauskas, Karolisde Voer, Richarda M.Kamsteeg, Erik-Janvan de Warrenburg, Bartvan Os, NienkePaske, Iris teJanssen, Erikde Boer, ElkeSteehouwer, MarloesYaldiz, BurcuKleefstra, TjitskeBrookes, Anthony J.Veal, ColinGibson, SpencerWadsley, MarcMehtarizadeh, MehdiRiaz, UmarWarren, GregDizjikan, Farid YavariShorter, ThomasTöpf, AnaStraub, VolkerBettolo, Chiara MariniSpecht, SabineClayton-Smith, JillBanka, SiddharthAlexander, ElizabethJackson, AdamFaivre, LaurenceThauvin, ChristelVitobello, AntonioDenommé-Pichon, Anne-SophieDuffourd, YannisTisserant, EmilieBruel, Ange-LinePeyron, ChristinePélissier, AuroreBeltran, SergiGut, Ivo GlynneLaurie, StevenPiscia, DavideMatalonga, LesliePapakonstantinou, AnastasiosBullich, GemmaCorvo, AlbertoGarcia, CarlesFernandez-Callejo, MarcosHernández, CarlesPicó, DanielParamonov, IdaLochmüller, HannsGumus, GulcinBros-Facer, VirginieRath, AnaHanauer, MarcOlry, AnnieLagorce, DavidHavrylenko, SvitlanaIzem, KatiaRigour, FannyStevanin, GiovanniDurr, AlexandraDavoine, Claire-SophieGuillot-Noel, LénaHeinzmann, AnnaCoarelli, GiuliaBonne, GisèleEvangelista, TeresinhaAllamand, ValérieNelson, IsabelleBen Yaou, RabahMetay, CorinneEymard, BrunoCohen, EnzoAtalaia, AntonioStojkovic, TanyaMacek, Milan, Jr.Turnovec, MarekThomasová, DanaKremliková, Radka PourováFranková, VeraHavlovicová, MarkétaKremlik, VlastimilParkinson, HelenKeane, ThomasSpalding, DylanSenf, AlexanderRobinson, PeterDanis, DanielRobert, GlennCosta, AlessiaPatch, ChristineHanna, MikeHoulden, HenryReilly, MaryVandrovcova, JanaMuntoni, FrancescoZaharieva, IrinaSarkozy, AnnaTimmerman, VincentBaets, JonathanVan de Vondel, LiedeweiBeijer, Daniquede Jonghe, PeterNigro, VincenzoBanfi, SandroTorella, AnnalauraMusacchia, FrancescoPiluso, GiulioFerlini, AlessandraSelvatici, RitaRossi, RacheleNeri, MarcellaAretz, StefanSpier, IsabelSommer, Anna KatharinaPeters, SophiaOliveira, CarlaPelaez, Jose GarciaMatos, Ana RitaJosé, Celina SãoFerreira, MartaGullo, IreneFernandes, SusanaGarrido, LuziaFerreira, PedroCarneiro, FátimaSwertz, Morris A.Johansson, Lennartvan der Velde, Joeri K.van der Vries, GerbenNeerincx, Pieter B.Roelofs-Prins, DieuwkeKöhler, SebastianMetcalfe, AlisonVerloes, AlainDrunat, SéverineRooryck, CarolineTrimouille, AurelienCastello, RaffaeleMorleo, ManuelaPinelli, MicheleVaravallo, AlessandraDe la Paz, Manuel PosadaSánchez, Eva BermejoMartín, Estrella LópezDelgado, Beatriz MartínezAlonso García de la Rosa, F. JavierCiolfi, AndreaDallapiccola, BrunoPizzi, SimoneRadio, Francesca ClementinaTartaglia, MarcoRenieri, AlessandraBenetti, ElisaBalicza, PeterMolnar, Maria JuditMaver, AlesPeterlin, BorutMünchau, AlexanderLohmann, KatjaHerzog, RebeccaPauly, MartjeMacaya, AlfonsMarcé-Grau, AnnaOsorio, Andres NascimientoNatera de Benito, DanielThompson, RachelPolavarapu, KiranBeeson, DavidCossins, JudithRodriguez Cruz, Pedro M.Hackman, PeterJohari, MridulSavarese, MarcoUdd, BjarneHorvath, RitaCapella, GabrielValle, LauraHolinski-Feder, ElkeLaner, AndreasSteinke-Lange, VerenaSchröck, EvelinRump, AndreasLin, Sheng-JiaJones, Elizabeth A.Chandler, Kate E.Orr, DavidMoss, CeliaHaider, ZahraRyan, GavinHolden, SimonHarrison, MikeBurrows, NigelJones, Wendy D.Loveless, MaryPetree, CassidyStewart, HelenLow, KarenDonnelly, DeirdreLovell, SimonDrosou, KonstantinaVarshney, Gaurav K.
In Human Genetics and Genomics Advances 13 April 2023 4(2)
Academic Journal
Calì E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK.; Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Sahin Y; Department of Medical Genetics, Genoks Genetic Laboratory, Ankara, Turkey.; Al Shamsi A; Tawam Hospital, Al Ain, United Arab Emirates.; El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence des Déficiences Intellectuelles de Causes Rares, Centre de Recherche en Biomédecine de Strasbourg (CRBS), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.; Chaabouni M; LGC genetics, Centre Medical les Jasmins, Tunis, Tunisia.; Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom.; Galanaki E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom.; Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Çelik T; Department of Pediatric Neurology, Private Practice, Adana, Turkey.; Narlı N; Division of Neonatology, Department of Pediatrics, Medical School, Cukurova University, Adana, Turkey.; Bianca S; Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy.; Murphy D; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy.; De Carvalho Moreira FM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, United Kingdom.; Andrea Accogli; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK.; Monastiri K; Department of Neonatology, Fattouma Bourguiba Hospital, Monastir, Tunisia.; Edizadeh M; Department of Medical Genetics, Genoks Genetic Laboratory, Ankara, Turkey.; Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy.; Ognibene M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; De Marco P; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.; Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU 'Policlinico,' University of Catania, Catania, Italy.; Zara F; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS 'Istituto Giannina Gaslini,' Genova, Italy.; Şahin Y; Department of Medical Genetics, Biruni University, İstanbul, Turkey.; Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates.; Abi Warde MT; Pediatric Neurology Department, CHU Strasbourg, Strasbourg, France.; Gerard B; Laboratoires de Diagnostic Génétique, Unité de Génétique Moléculaire, Nouvel Hôpital Civil, Strasbourg Cedex, France.; Zifarelli G; CENTOGENE AG, Rostock, Germany.; Beetz C; CENTOGENE AG, Rostock, Germany.; Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy.; Soler M; CONCEPT Lab, Italian Institute of Technology (IIT), Genova, Italy.; Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.; Varshney G; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address: v.salpietro@ucl.ac.uk.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Academic Journal
Qin W; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.; Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.; Zhang Y; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.; Boyd K; Cell & Cancer Biology Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.; Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, 73104, USA.
Publisher: WILEY-VCH Country of Publication: Germany NLM ID: 101664569 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2198-3844 (Electronic) Linking ISSN: 21983844 NLM ISO Abbreviation: Adv Sci (Weinh) Subsets: MEDLINE
Academic Journal
Qin W; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Lin SJ; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Zhang Y; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Huang K; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Petree C; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Varshney P; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.; Varshney GK; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA. gaurav-varshney@omrf.org.
Publisher: Springer Nature Country of Publication: England NLM ID: 101696896 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2157-846X (Electronic) Linking ISSN: 2157846X NLM ISO Abbreviation: Nat Biomed Eng Subsets: MEDLINE
Academic Journal
Lin, Sheng-JiaVona, BarbaraBarbalho, Patricia G.Kaiyrzhanov, RauanMaroofian, RezaPetree, CassidySeverino, MariasavinaStanley, ValentinaVarshney, PratishthaBahena, PaulinaAlzahrani, FatemaAlhashem, AmalPagnamenta, Alistair T.Aubertin, GudrunEstrada-Veras, Juvianee I.Hernández, Héctor Adrián DíazMazaheri, NedaOza, AndreaThies, JennyRenaud, Deborah L.Dugad, SanmatiMcEvoy, JenniferSultan, TipuPais, Lynn S.Tabarki, BrahimVillalobos-Ramirez, DanielRad, AboulfazlAmbrose, J.C.Arumugam, P.Bleda, M.Boardman-Pretty, F.Boustred, C.R.Brittain, H.Caulfield, M.J.Chan, G.C.Fowler, T.Giess, A.Hamblin, A.Henderson, S.Hubbard, T.J.P.Jackson, R.Jones, L.J.Kasperaviciute, D.Kayikci, M.Kousathanas, A.Lahnstein, L.Leigh, S.E.A.Leong, I.U.S.Lopez, F.J.Maleady-Crowe, F.Moutsianas, L.Mueller, M.Murugaesu, N.Need, A.C.O‘Donovan, P.Odhams, C.A.Patch, C.Perez-Gil, D.Pereira, M.B.Pullinger, J.Rahim, T.Rendon, A.Rogers, T.Savage, K.Sawant, K.Scott, R.H.Siddiq, A.Sieghart, A.Smith, S.C.Sosinsky, A.Stuckey, A.Tanguy, M.Thomas, E.R.A.Thompson, S.R.Tucci, A.Walsh, E.Welland, M.J.Williams, E.Witkowska, K.Wood, S.M.Galehdari, HamidAshrafzadeh, FarahSahebzamani, AfsanehSaeidi, KolsoumTorti, ErinElloumi, Houda Z.Mora, SaraPalculict, Timothy B.Yang, HuiWren, Jonathan D.Ben FowlerJoshi, ManaliBehra, MartineBurgess, Shawn M.Nath, Swapan K.Hanna, Michael G.Kenna, MargaretMerritt, J. Lawrence, IIHoulden, HenryKarimiani, Ehsan GhayoorZaki, Maha S.Haaf, ThomasAlkuraya, Fowzan S.Gleeson, Joseph G.Varshney, Gaurav K.
In Genetics in Medicine October 2021 23(10):1933-1943
Conference
Proceedings 2000 IEEE International Conference on Phased Array Systems and Technology (Cat. No.00TH8510) Phased array systems and technology Phased Array Systems and Technology, 2000. Proceedings. 2000 IEEE International Conference on. :267-270 2000
Academic Journal
Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, United States.; Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, United States.; Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, United States.; Qin W; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, United States.; Varshney P; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, United States.; Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, United States.
Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE
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