학술논문


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'학술논문' 에서 검색결과 92건 | 목록 1~20
Academic Journal
Genet Med
van Jaarsveld, R H, Reilly, J, Cornips, M-C, Hadders, M A, Agolini, E, Ahimaz, P, Anyane-Yeboa, K, Bellanger, S A, van Binsbergen, E, van den Boogaard, M-J, Brischoux-Boucher, E, Caylor, R C, Ciolfi, A, van Essen, T A J, Fontana, P, Hopman, S, Iascone, M, Javier, M M, Kamsteeg, E-J, Kerkhof, J, Kido, J, Kim, H-G, Kleefstra, T, Lonardo, F, Lai, A, Lev, D, Levy, M A, Lewis, M E S, Lichty, A, Mannens, M M A M, Matsumoto, N, Maya, I, McConkey, H, Megarbane, A, Michaud, V, Miele, E, Niceta, M, Novelli, A, Onesimo, R, Pfundt, R, Popp, B, Prijoles, E, Relator, R, Redon, S, Rots, D, Rouault, K, Saida, K, Schieving, J, Tartaglia, M, Tenconi, R, Uguen, K, Verbeek, N, Walsh, C A, Yosovich, K, Yuskaitis, C J, Zampino, G, Sadikovic, B, Alders, M & Oegema, R 2023, 'Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature', Genetics in Medicine, vol. 25, no. 1, pp. 49-62. https://doi.org/10.1016/j.gim.2022.09.006
Genetics in Medicine, 25, 1, pp. 49-62
Academic Journal
Rots, DmitrijsJakub, Taryn E.Keung, CrystalJackson, AdamBanka, SiddharthPfundt, Rolphde Vries, Bert B.A.van Jaarsveld, Richard H.Hopman, Saskia M.J.van Binsbergen, EllenValenzuela, IreneHempel, MajaBierhals, TatjanaKortüm, FannyLecoquierre, FrancoisGoldenberg, AliceHertz, Jens MichaelAndersen, Charlotte BraschKibæk, MariaPrijoles, Eloise J.Stevenson, Roger E.Everman, David B.Patterson, Wesley G.Meng, LinyanGijavanekar, CharulDe Dios, KarlLakhani, ShenelaLevy, TessWagner, MatiasWieczorek, DagmarBenke, Paul J.Lopez Garcia, María SoledadPerrier, ReneeSousa, Sergio B.Almeida, Pedro M.Simões, Maria JoséIsidor, BertrandDeb, WallidSchmanski, Andrew A.Abdul-Rahman, OmarPhilippe, ChristopheBruel, Ange-LineFaivre, LaurenceVitobello, AntonioThauvin, ChristelSmits, Jeroen J.Garavelli, LiviaCaraffi, Stefano G.Peluso, FrancescaDavis-Keppen, LauraPlatt, DylanRoyer, ErinLeeuwen, LisetteSinnema, MargjeStegmann, Alexander P.A.Stumpel, Constance T.R.M.Tiller, George E.Bosch, Daniëlle G.M.Potgieter, Stephanus T.Joss, ShelaghSplitt, MirandaHolden, SimonPrapa, MatinaFoulds, NicolaDouzgou, SofiaPuura, KaijaWaltes, ReginaChiocchetti, Andreas G.Freitag, Christine M.Satterstrom, F. KyleDe Rubeis, SilviaBuxbaum, JosephGelb, Bruce D.Branko, AleksicKushima, ItaruHowe, JenniferScherer, Stephen W.Arado, AlessiaBaldo, ChiaraPatat, OlivierBénédicte, DemeerLopergolo, DiegoSantorelli, Filippo M.Haack, Tobias B.Dufke, AndreasBertrand, MiriamFalb, Ruth J.Rieß, AngelikaKrieg, PeterSpranger, StephanieBedeschi, Maria FrancescaIascone, MariaJosephi-Taylor, SarahRoscioli, TonyBuckley, Michael F.Liebelt, JanDagli, Aditi I.Aten, EmmelienHurst, Anna C.E.Hicks, AleshaSuri, MohnishAliu, ErmalNaik, SunilSidlow, RichardCoursimault, JulietteNicolas, GaëlKüpper, HannaPetit, FlorenceIbrahim, VeyanTop, DenizDi Cara, FrancescaLouie, Raymond J.Stolerman, ElliotBrunner, Han G.Vissers, Lisenka E.L.M.Kramer, Jamie M.Kleefstra, Tjitske
In The American Journal of Human Genetics 1 June 2023 110(6):963-978
Academic Journal
Hiatt, Susan M.Trajkova, SlavicaSebastiano, Matteo RossiPartridge, E. ChristopherAbidi, Fatima E.Anderson, AshlynAnsar, MuhammadAntonarakis, Stylianos E.Azadi, AzadehBachmann-Gagescu, RuxandraBartuli, AndreaBenech, CarolineBerkowitz, Jennifer L.Betti, Michael J.Brusco, AlfredoCannon, AshleyCaron, GiuliaChen, YanminCochran, Meagan E.Coleman, Tanner F.Crenshaw, Molly M.Cuisset, LaurenceCurry, Cynthia J.Darvish, HosseinDemirdas, SerwetDescartes, MariaDouglas, JessicaDyment, David A.Elloumi, Houda ZghalErmondi, GiuseppeFaoucher, MarieFarrow, Emily G.Felker, Stephanie A.Fisher, HeatherHurst, Anna C.E.Joset, PascalKelly, Melissa A.Kmoch, StanislavLeadem, Benjamin R.Lyons, Michael J.Macchiaiolo, MarinaMagner, MartinMandrile, GiorgiaMattioli, FrancescaMcEown, MeganMeadows, Sarah K.Medne, LivijaMeeks, Naomi J.L.Montgomery, SarahNapier, Melanie P.Natowicz, MarvinNewberry, Kimberly M.Niceta, MarcelloNoskova, LenkaNowak, Catherine B.Noyes, Amanda G.Osmond, MatthewPrijoles, Eloise J.Pugh, JadaPullano, VerdianaQuélin, ChloéRahimi-Aliabadi, SiminRauch, AnitaRedon, SylviaReymond, AlexandreSchwager, Caitlin R.Sellars, Elizabeth A.Scheuerle, Angela E.Shukarova-Angelovska, ElenaSkraban, CaraStolerman, ElliotSullivan, Bonnie R.Tartaglia, MarcoThiffault, IsabelleUguen, KevinUmaña, Luis A.van Bever, Yolandevan der Crabben, Saskia N.van Slegtenhorst, Marjon A.Waisfisz, QuintenWashington, CamerunRodan, Lance H.Myers, Richard M.Cooper, Gregory M.
In The American Journal of Human Genetics 2 February 2023 110(2):215-227
Academic Journal
In Genetics in Medicine November 2023 25(11)
Academic Journal
Rots, DmitrijsJakub, Taryn E.Keung, CrystalJackson, AdamBanka, SiddharthPfundt, Rolphde Vries, Bert B.A.van Jaarsveld, Richard H.Hopman, Saskia M.J.van Binsbergen, EllenValenzuela, IreneHempel, MajaBierhals, TatjanaKortüm, FannyLecoquierre, FrancoisGoldenberg, AliceHertz, Jens MichaelAndersen, Charlotte BraschKibæk, MariaPrijoles, Eloise J.Stevenson, Roger E.Everman, David B.Patterson, Wesley G.Meng, LinyanGijavanekar, CharulDe Dios, KarlLakhani, ShenelaLevy, TessWagner, MatiasWieczorek, DagmarBenke, Paul J.Lopez Garcia, María SoledadPerrier, ReneeSousa, Sergio B.Almeida, Pedro M.Simões, Maria JoséIsidor, BertrandDeb, WallidSchmanski, Andrew A.Abdul-Rahman, OmarPhilippe, ChristopheBruel, Ange-LineFaivre, LaurenceVitobello, AntonioThauvin, ChristelSmits, Jeroen J.Garavelli, LiviaCaraffi, Stefano G.Peluso, FrancescaDavis-Keppen, LauraPlatt, DylanRoyer, ErinLeeuwen, LisetteSinnema, MargjeStegmann, Alexander P.A.Stumpel, Constance T.R.M.Tiller, George E.Bosch, Daniëlle G.M.Potgieter, Stephanus T.Joss, ShelaghSplitt, MirandaHolden, SimonPrapa, MatinaFoulds, NicolaDouzgou, SofiaPuura, KaijaWaltes, ReginaChiocchetti, Andreas G.Freitag, Christine M.Satterstrom, F. KyleDe Rubeis, SilviaBuxbaum, JosephGelb, Bruce D.Branko, AleksicKushima, ItaruHowe, JenniferScherer, Stephen W.Arado, AlessiaBaldo, ChiaraPatat, OlivierBénédicte, DemeerLopergolo, DiegoSantorelli, Filippo M.Haack, Tobias B.Dufke, AndreasBertrand, MiriamFalb, Ruth J.Rieß, AngelikaKrieg, PeterSpranger, StephanieBedeschi, Maria FrancescaIascone, MariaJosephi-Taylor, SarahRoscioli, TonyBuckley, Michael F.Liebelt, JanDagli, Aditi I.Aten, EmmelienHurst, Anna C.E.Hicks, AleshaSuri, MohnishAliu, ErmalNaik, SunilSidlow, RichardCoursimault, JulietteNicolas, GaëlKüpper, HannaPetit, FlorenceIbrahim, VeyanTop, DenizDi Cara, FrancescaLouie, Raymond J.Stolerman, ElliotBrunner, Han G.Vissers, Lisenka E.L.M.Kramer, Jamie M.Kleefstra, Tjitske
In The American Journal of Human Genetics 6 November 2025 112(11):2814-2814
Academic Journal
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Blankenship K; University of South Carolina Genetic Counseling Program, Columbia, South Carolina, USA.; University of Iowa Hospitals and Clinics, Iowa City, Iowa, USA.; Chieffo S; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Morris E; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Slomp C; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Batallones R; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.; Prijoles E; Greenwood Genetic Center, Columbia, Columbia, South Carolina, USA.; Hill-Chapman C; University of South Carolina Genetic Counseling Program, Columbia, South Carolina, USA.; Department of Psychology, Francis Marion University, Florence, South Carolina, USA.; Austin J; Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.; Department of Psychiatry, University of British Columbia, Vancouver, British Columbia, Canada.
Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599 (Electronic) Linking ISSN: 10597700 NLM ISO Abbreviation: J Genet Couns Subsets: MEDLINE
Academic Journal
Werren E; University of Michigan-Ann Arbor.; LaForce G; Case Western Reserve University.; Srivastava A; Sanjay Gandhi Postgraduate Institute of Medical Sciences.; Perillo D; University of Michigan.; Johnson K; Case Western Reserve University.; Berger B; Case Western Reserve University.; Regan S; University of Michigan.; Pfennig C; University of Michigan.; Baris S; Marmara University Hospital.; de Munnik S; Radboud University Medical Centre Nijmegen.; Pfundt R; Radboud University Medical Centre.; Hebbar M; University of Washington.; Jimenez Heredia R; CeMM Research Center for Molecular Medicine.; Karakoc-Aydiner E; Marmara University Hospital.; Ozen A; Marmara University Hospital.; Dmytrus J; CeMM Research Centre for Molecular Medicine of the Austrian Academy of Sciences.; Krolo A; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.; Corning K; Greenwood Genetic Center.; Prijoles E; Greenwood Genetic Center.; Louie R; Greenwood Genetic Center.; Lebel R; SUNY Upstate University Hospital.; Le TL; Imagine Institute, INSERM U1163, Paris Descartes University.; Amiel J; Necker.; Gordon C; Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine.; Boztug K; Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases.; Girisha K; Kasturba Medical College, Manipal, Manipal Academy of Higher Education.; Shukla A; Kasturba Medical College.; Bielas S; University of Michigan-Ann Arbor.; Schaffer A; Case Western Reserve University.
Country of Publication: United States NLM ID: 101768035 Publication Model: Electronic Cited Medium: Internet ISSN: 2693-5015 (Electronic) Linking ISSN: 26935015 NLM ISO Abbreviation: Res Sq Subsets: PubMed not MEDLINE
Academic Journal
Rots, D.Jakub, T.E.Keung, C.Lisenka, V.E.L.M.Banka, S.Pfundt, R.Vries, B.B.A. deJaarsveld, R.H. vanHopman, S.M.J.Binsbergen, E. vanValenzuela, I.Hempel, M.Bierhals, T.Kortüm, F.Lecoquierre, F.Goldenberg, A.Hertz, J.M.Andersen, C.B.Kibaek, M.Prijoles, E.J.Stevenson, R.E.Everman, D.B.Patterson, W.G.Meng, L.Y.Gijavanekar, C.Dios, K. deLakhani, S.Levy, T.Wagner, M.Wieczorek, D.Benke, P.J.Garcia, M.S.L.Perrier, R.Sousa, S.B.Almeida, P.M.Simoes, M.J.Isidor, B.Deb, W.Schmanski, A.A.Abdul-Rahman, O.Philippe, C.Bruel, A.L.Faivre, L.Vitobello, A.Thauvin, C.Smits, J.J.Garavelli, L.Caraffi, S.G.Peluso, F.Davis-Keppen, L.Platt, D.Royer, E.Leeuwen, L.Sinnema, M.Stegmann, A.P.A.Stumpel, C.T.R.M.Tiller, G.E.Bosch, D.S.D.L.G.M.Potgieter, S.T.Joss, S.Splitt, M.Holden, S.Prapa, M.Foulds, N.Douzgou, S.Puura, K.Waltes, R.Chiocchetti, A.G.Freitag, C.M.Satterstrom, F.K.Rubeis, S. deBuxbaum, J.Gelb, B.D.Branko, A.Kushima, I.Howe, J.Scherer, S.W.Arado, A.Baldo, C.Patat, O.Benedicte, D.Lopergolo, D.Santorelli, F.M.Haack, T.B.Dufke, A.Bertrand, M.Falb, R.J.Riess, A.Krieg, P.Spranger, S.Bedeschi, M.F.Iascone, M.Josephi-Taylor, S.Roscioli, T.Buckley, M.F.Liebelt, J.Dagli, A.I.Aten, E.Hurst, A.C.E.Hicks, A.Suri, M.Aliu, E.Naik, S.Sidlow, R.Coursimault, J.Nicolas, G.Küpper, H.Petit, F.Ibrahim, V.Top, D.Cara, F. diLouie, R.J.Stolerman, E.Brunner, H.G.Vissers, L.E.L.M.Kramer, J.M.Kleefstra, T.Genomics England Res Consortium
Academic Journal
Haghshenas, SadeghehBout, Hidde JSchijns, Josephine MLevy, Michael AKerkhof, JenniferBhai, PratibhaMcConkey, HaleyJenkins, Zandra AWilliams, Ella MHalliday, Benjamin JHuisman, Sylvia ALauffer, Peterde Waard, VivianWitteveen, LauraBanka, SiddharthBrady, Angela FGalazzi, Elenavan Gils, JulienHurst, Anna C EKaiser, Frank JLacombe, DidierMartinez-Monseny, Antonio FFergelot, PatriciaMonteiro, Fabíola PParenti, IlariaPersani, LucaSantos-Simarro, FernandoSimpson, Brittany NAlders, MariëlleRobertson, Stephen PSadikovic, BekimMenkeLeonie A The members of the MKHK Research Consortium are An- drea AngiusJanice A. BakerEmma BedoukianVikas BhambhaniOlaf BodamerAlan O’BrienJill Clayton- SmithLaura CrisponiAnna Mar ́ıa Cueto Gonza ́lezthe DDD studyKoenraad DevriendtElena Dominguez Gar- ridoNadja EhmkeAlbertien van EerdeAnnette P. M. van den ElzenLaurence FaivreLaura FisherJosue A. Flores- DaboubAlison FosterJennifer FriedmanElisabeth GabauElena GalazziSixto Garc ́ıa-Min ̃au ́rLivia GaravelliThat- jana GardeitchikErica H. GerkesJulien van GilsJacques C. GiltayAixa Gonzalez GarciaKetil Riddervold HeimdalDenise HornGunnar HougeSophia B. HufnagelDenisa IlencikovaSophie JuliaSarina G. KantEsther KinningEric W. KleeChelsea KoisMaja KovacevicA. M. A. (Guus) LachmeijerBrendan LanpherMarine LebrunEyby LeonAngie Ward LichtyRuth LinIsabel Llano-RivasSally Ann LynchSaskia M. MaasSilvia B. MaitzShane McKeeDaniela MelisElisabetta MeratiGiuseppe MerlaRuth Newbury-EcobMathilde NizonSoo-Mi ParkJennifer Pat- tersonFlorence PetitHilde PeetersLuca PersaniIvana Per- sicoValentina PesMarzia PollazzonThomas PotjerLor- raine PotockiCarrie PottingerChitra PrasadEloise J. PrijolesNicola K. RaggeJan Peter RakeConny M. A. van Ravenswaaij-ArtsGillian ReaClaudia RuivenkampAu- drey RutzSulagna C SaittaRossana Sanchez RussoGijs W. E. SantenElise SchaeferVandana ShashiLaura Schultz-RogersAndrea SlugaStefano SotgiuElisabeth Steichen-GersdorfJennifer A. SullivanYu SunMohnish SuriMarco TartagliaMatt TedderPaulien TerhalIan TullyNienke VerbeekMaren WenzelSusan M. WhiteBing Xiao.
HGG Adv
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears
HGG Advances, Vol 5, Iss 4, Pp 100337-(2024)
MKHK Research Consortium 2024, 'Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles', Human Genetics and Genomics Advances, vol. 5, no. 3, 100287. https://doi.org/10.1016/j.xhgg.2024.100287
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[검색어] Prijoles, E. J.
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