학술논문


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'학술논문' 에서 검색결과 423건 | 목록 1~20
Academic Journal
Bennett MF; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Corbett MA; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.; Kroes T; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.; Canafoglia L; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Oliver KL; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Cameron JM; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Sikta N; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Munro J; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.; Fearnley LG; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.; Ibañez K; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Tucci A; William Harvey Research Institute, Queen Mary University of London, London EC1M 6BQ, UK.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.; Chalfont Centre for Epilepsy, Chalfont St Peter SL9 0RJ, UK.; Hildebrand MS; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.; Scheffer IE; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Murdoch Children's Research Institute, Parkville, Victoria 3052, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia.; Department of Paediatrics, The University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.; The Florey Institute, Parkville, Victoria 3052, Australia.; Courage C; Folkhälsan Research Center, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00014, Finland.; Lehesjoki AE; Folkhälsan Research Center, Helsinki 00290, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki 00014, Finland.; Giuliano L; Department of Medical and Surgical Sciences and Advanced Technologies 'G.F. Ingrassia', Section of Neurosciences, University of Catania, Catania 95123, Italy.; Didato G; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Franceschetti S; Department of Diagnostic and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.; Gecz J; Robinson Research Institute & Adelaide Medical School, The University of Adelaide, Adelaide, South Australia 5005, Australia.; South Australian Health and Medical Research Institute, Adelaide, South Australia 5000, Australia.; Berkovic SF; Epilepsy Research Centre, Department of Medicine, The University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.; Bladin-Berkovic Comprehensive Epilepsy Program, Department of Neurology, Austin Health, Heidelberg, Victoria 3084, Australia.; Bahlo M; Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.; Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3052, Australia.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Academic Journal
Gunnar J; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Liu Y; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Eronen H; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Joensuu T; Folkhälsan Research Center, Helsinki, Finland.; Medicum, University of Helsinki, Helsinki, Finland.; Äikiä M; Kuopio Epilepsy Center, Kuopio University Hospital, Member of ERN EpiCARE, Kuopio, Finland.; Hyppönen J; Kuopio Epilepsy Center, Kuopio University Hospital, Member of ERN EpiCARE, Kuopio, Finland.; Silvennoinen K; Epilepsia Helsinki, Helsinki University Hospital, Member of ERN EpiCare, Helsinki, Finland.; Mervaala E; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Kuopio University Hospital, Kuopio, Finland.; Hakumäki J; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Imaging Center, Kuopio University Hospital, Kuopio, Finland.; Lehesjoki AE; Folkhälsan Research Center, Helsinki, Finland.; Medicum, University of Helsinki, Helsinki, Finland.; Kälviäinen R; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Kuopio Epilepsy Center, Kuopio University Hospital, Member of ERN EpiCARE, Kuopio, Finland.
Publisher: Wiley Country of Publication: United States NLM ID: 100891853 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6945 (Electronic) Linking ISSN: 12949361 NLM ISO Abbreviation: Epileptic Disord Subsets: MEDLINE
Academic Journal
Epi25 CollaborativeFeng YAHowrigan DPAbbott LETashman KCerrato FSingh THeyne HByrnes AChurchhouse CWatts NSolomonson MLal DHeinzen ELDhindsa RSStanley KECavalleri GLHakonarson HHelbig IKrause RMay PWeckhuysen SPetrovski SKamalakaran SSisodiya SMCossette PCotsapas CDe Jonghe PDixon-Salazar TGuerrini RKwan PMarson AGStewart RDepondt CDlugos DJScheffer IEStriano PFreyer CMcKenna KRegan BMBellows STLeu CBennett CAJohns EMCMacdonald AShilling HBurgess RWeckhuysen DBahlo MO'Brien TJTodaro MStamberger HAndrade DMSadoway TRMo KKrestel HGallati SPapacostas SSKousiappa ITanteles GAŠtěrbová KVlčková MSedláčková LLaššuthová PKlein KMRosenow FReif PSKnake SKunz WSZsurka GElger CEBauer JRademacher MPendziwiat MMuhle HRademacher Avan Baalen Avon Spiczak SStephani UAfawi ZKorczyn ADKanaan MCanavati CKurlemann GMüller-Schlüter KKluger GHäusler MBlatt ILemke JRKrey IWeber YGWolking SBecker FHengsbach CRau SMaisch AFSteinhoff BJSchulze-Bonhage ASchubert-Bast SSchreiber HBorggräfe ISchankin CJMayer TKorinthenberg RBrockmann KDennig DMadeleyn RKälviäinen RAuvinen PSaarela ALinnankivi TLehesjoki AERees MIChung SKPickrell WOPowell RSchneider NBalestrini SZagaglia SBraatz VJohnson MRAuce PSills GJBaum LWSham PCCherny SSLui CHTBarišić NDelanty NDoherty CPShukralla AMcCormack MEl-Naggar HCanafoglia LFranceschetti SCastellotti BGranata TZara FIacomino MMadia FVari MSMancardi MMSalpietro VBisulli FTinuper PLicchetta LPippucci TStipa CMinardi RGambardella ALabate AAnnesi GManna LGagliardi MParrini EMei DVetro ABianchini CMontomoli MDoccini VMarini CSuzuki TInoue YYamakawa KTumiene BSadleir LGKing CMountier ECaglayan SHArslan MYapıcı ZYis UTopaloglu PKara BTurkdogan DGundogdu-Eken ABebek NUğur-İşeri SBaykan BSalman BHaryanyan GYücesan EKesim YÖzkara ÇPoduri AShiedley BRShain CBuono RJFerraro TNSperling MRLo WPrivitera MFrench JASchachter SKuzniecky RIDevinsky OHegde MKhankhanian PHelbig KLEllis CASpalletta GPiras FGili TCiullo VReif AMcQuillin ABass NMcIntosh ABlackwood DJohnstone MPalotie APato MTPato CNBromet EJCarvalho CBAchtyes EDAzevedo MHKotov RLehrer DSMalaspina DMarder SRMedeiros HMorley CPPerkins DOSobell JLBuckley PFMacciardi FRapaport MHKnowles JAFanous AHMcCarroll SAGupta NGabriel SBDaly MJLander ESLowenstein DHGoldstein DBLerche HBerkovic SFNeale BM.
American journal of human genetics (Online) 105 (2019): 267–282. doi:10.1016/j.ajhg.2019.05.020
info:cnr-pdr/source/autori:Feng Y.-C.A.; Howrigan D.P.; Abbott L.E.; Tashman K.; Cerrato F.; Singh T.; Heyne H.; Byrnes A.; Churchhouse C.; Watts N.; Solomonson M.; Lal D.; Heinzen E.L.; Dhindsa R.S.; Stanley K.E.; Cavalleri G.L.; Hakonarson H.; Helbig I.; Krause R.; May P.; Weckhuysen S.; Petrovski S.; Kamalakaran S.; Sisodiya S.M.; Cossette P.; Cotsapas C.; De Jonghe P.; Dixon-Salazar T.; Guerrini R.; Kwan P.; Marson A.G.; Stewart R.; Depondt C.; Dlugos D.J.; Scheffer I.E.; Striano P.; Freyer C.; McKenna K.; Regan B.M.; Bellows S.T.; Leu C.; Bennett C.A.; Johns E.M.C.; Macdonald A.; Shilling H.; Burgess R.; Weckhuysen D.; Bahlo M.; O'Brien T.J.; Todaro M.; Stamberger H.; Andrade D.M.; Sadoway T.R.; Mo K.; Krestel H.; Gallati S.; Papacostas S.S.; Kousiappa I.; Tanteles G.A.; Sterbova K.; Vlckova M.; Sedlackova L.; Lassuthova P.; Klein K.M.; Rosenow F.; Reif P.S.; Knake S.; Kunz W.S.; Zsurka G.; Elger C.E.; Bauer J.; Rademacher M.; Pendziwiat M.; Muhle H.; Rademacher A.; van Baalen A.; von Spiczak S.; Stephani U.; Afawi Z.; Korczyn A.D.; Kanaan M.; Canavati C.; Kurlemann G.; Muller-Schluter K.; Kluger G.; Hausler M.; Blatt I.; Lemke J.R.; Krey I.; Weber Y.G.; Wolking S.; Becker F.; Hengsbach C.; Rau S.; Maisch A.F.; Steinhoff B.J.; Schulze-Bonhage A.; Schubert-Bast S.; Schreiber H.; Borggrafe I.; Schankin C.J.; Mayer T.; Korinthenberg R.; Brockmann K.; Dennig D.; Madeleyn R.; Kalviainen R.; Auvinen P.; Saarela A.; Linnankivi T.; Lehesjoki A.-E.; Rees M.I.; Chung S.-K.; Pickrell W.O.; Powell R.; Schneider N.; Balestrini S.; Zagaglia S.; Braatz V.; Johnson M.R.; Auce P.; Sills G.J.; Baum L.W.; Sham P.C.; Cherny S.S.; Lui C.H.T.; Barisic N.; Delanty N.; Doherty C.P.; Shukralla A.; McCormack M.; El-Naggar H.; Canafoglia L.; Franceschetti S.; Castellotti B.; Granata T.; Zara F.; Iacomino M.; Madia F.; Vari M.S.; Mancardi M.M.; Salpietro V.; Bisulli F.; Tinuper P.; Licchetta L.; Pippucci T.; Stipa C.; Minardi R.; Gambardella A.; Labate A.; Annesi G.; Manna L.; Gagliardi M.; Parrini E.; Mei D.; Vetro A.; Bianchini C.; Montomoli M.; Doccini V.; Marini C.; Suzuki T.; Inoue Y.; Yamakawa K.; Tumiene B.; Sadleir L.G.; King C.; Mountier E.; Caglayan S.H.; Arslan M.; Yapici Z.; Yis U.; Topaloglu P.; Kara B.; Turkdogan D.; Gundogdu-Eken A.; Bebek N.; Ugur-Iseri S.; Baykan B.; Salman B.; Haryanyan G.; Yucesan E.; Kesim Y.; Ozkara C.; Poduri A.; Shiedley B.R.; Shain C.; Buono R.J.; Ferraro T.N.; Sperling M.R.; Lo W.; Privitera M.; French J.A.; Schachter S.; Kuzniecky R.I.; Devinsky O.; Hegde M.; Khankhanian P.; Helbig K.L.; Ellis C.A.; Spalletta G.; Piras F.; Piras F.; Gili T.; Ciullo V.; Reif A.; McQuillin A.; Bass N.; McIntosh A.; Blackwood D.; Johnstone M.; Palotie A.; Pato M.T.; Pato C.N.; Bromet E.J.; Carvalho C.B.; Achtyes E.D.; Azevedo M.H.; Kotov R.; Lehrer D.S.; Malaspina D.; Marder S.R.; Medeiros H.; Morley C.P.; Perkins D.O.; Sobell J.L.; Buckley P.F.; Macciardi F.; Rapaport M.H.; Knowles J.A.; Fanous A.H.; McCarroll S.A.; Gupta N.; Gabriel S.B.; Daly M.J.; Lander E.S.; Lowenstein D.H.; Goldstein D.B.; Lerche H.; Berkovic S.F.; Neale B.M./titolo:Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals/doi:10.1016%2Fj.ajhg.2019.05.020/rivista:American journal of human genetics (Online)/anno:2019/pagina_da:267/pagina_a:282/intervallo_pagine:267–282/volume:105
American Journal of Human Genetics, vol 105, iss 2
The American Journal of Human Genetics
Academic Journal
Jonsson H; Epilepsia Helsinki, full member of ERN Epicare and Division of Child Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Gaily E; Epilepsia Helsinki, full member of ERN Epicare and Division of Child Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Stjerna S; BABA Center, Pediatric Research Center, Children's Hospital and Division of Neuropsychology, HUS Neurocenter, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.; Joensuu T; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Johari M; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.; Lehesjoki AE; Folkhälsan Research Center, Helsinki, Finland.; Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.; Linnankivi T; Epilepsia Helsinki, full member of ERN Epicare and Division of Child Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2470-9239 (Electronic) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: MEDLINE
Academic Journal
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, 'GRIN2B encephalopathy : Novel findings on phenotype, variant clustering, functional consequences and treatment aspects', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470. https://doi.org/10.1136/jmedgenet-2016-104509
Journal of Medical Genetics, Vol. 54, No 7 (2017) pp. 460-470
Platzer, K, Yuan, H, Schütz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Strømme, P, Biskup, S, Döcker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A J, Sadleir, L G, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Møller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, ' GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects ', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470 . https://doi.org/10.1136/jmedgenet-2016-104509
J. Med. Genet. 54, 460-470 (2017)
Platzer, K, Yuan, H, Schuetz, H, Winschel, A, Chen, W, Hu, C, Kusumoto, H, Heyne, H O, Helbig, K L, Tang, S, Willing, M C, Tinkle, B T, Adams, D J, Depienne, C, Keren, B, Mignot, C, Frengen, E, Stromme, P, Biskup, S, Doecker, D, Strom, T M, Mefford, H C, Myers, C T, Muir, A M, LaCroix, A, Sadleir, L, Scheffer, I E, Brilstra, E, van Haelst, M M, van der Smagt, J J, Bok, L A, Moller, R S, Jensen, U B, Millichap, J J, Berg, A T, Goldberg, E M, De Bie, I, Fox, S, Major, P, Jones, J R, Zackai, E H, Abou Jamra, R, Rolfs, A, Leventer, R J, Lawson, J A, Roscioli, T, Jansen, F E, Ranza, E, Korff, C M, Lehesjoki, A-E, Courage, C, Linnankivi, T, Smith, D R, Stanley, C, Mintz, M, McKnight, D, Decker, A, Tan, W-H, Tarnopolsky, M A, Brady, L I, Wolff, M, Dondit, L, Pedro, H F, Parisotto, S E, Jones, K L, Patel, A D, Franz, D N, Vanzo, R, Marco, E, Ranells, J D, Di Donato, N, Dobyns, W B, Laube, B, Traynelis, S F & Lemke, J R 2017, 'GRIN2B encephalopathy : novel findings on phenotype, variant clustering, functional consequences and treatment aspects', Journal of Medical Genetics, vol. 54, no. 7, pp. 460-470. https://doi.org/10.1136/jmedgenet-2016-104509
Academic Journal
Järvelä I; Department of Medical Genetics, University of Helsinki, 00251 Helsinki, Finland.; Paetau R; Department of Child Neurology, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland.; Rajendran Y; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.; Acharya A; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.; Bharadwaj T; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.; Leal SM; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.; Taub Institute, Columbia University Medical Center, 10032 New York, NY, USA.; Lehesjoki AE; Department of Medical Genetics, University of Helsinki, 00251 Helsinki, Finland.; Folkhälsan Research Center, 00290 Helsinki, Finland.; Palomäki M; Medical Imaging Center, University of Helsinki and Helsinki University Hospital, 00290 Helsinki, Finland.; Schrauwen I; Center for Statistical Genetics, Gertrude H. Sergievsky Center, Department of Neurology, Columbia University Medical Center, 10032 New York, NY, USA.
Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE
Academic Journal
Syrbe, SteffenHedrichUlrike B. S.Riesch, ErikDjémié, TaniaMüller, StephanMøllerRikke S.Maher, BridgetHernandez HernandezLaura, SynofzikMatthis, CaglayanHande S.Arslan, MutluaySerratosaJosé M.Nothnagel, MichaelMay, PatrickKrause, RolandLöffler, HeidrunDetert, KatjaDorn, ThomasVogt, HeinrichKrämer, GünterSchöls, LudgerMullisPrimus E.Linnankivi, TarjaLehesjokiAnna ElinaSterbova, KatalinCraiuDana C.Hoffman ZacharskaDorota, KorffChristian M.WeberYvonne G.Steinlin, MajaGallati, SabinaBertsche, AstridBernhardMatthias K.Merkenschlager, AndreasKiess, WielandGonzalez, MichaelZüchner, StephanPalotie, AarnoSuls, ArvidDe JonghePeter, HelbigIngo, BiskupSaskia, WolffMarkus, MaljevicSnezana, SchüleRebecca, SisodiyaSanjay M.Weckhuysen, SarahLerche, HolgerLemkeJohannes R. Collaborators Balling RBarisic NBaulac SCaglayan HSCraiu DCDe Jonghe PDepienne CGormley PGUERRINI, RENZOHelbig IHjalgrim HHoffman Zacharska DJähn JKlein KMKoeleman BPKomarek VKrause RLeGuern ELehesjoki AELemke JRLerche HMarini CMay PMøller RSMuhle HPalotie APal DRosenow FSelmer KSerratosa JMSisodiya SMStephani USterbova KStriano PSuls ATalvik Tvon Spiczak SG. Weber YWeckhuysen SZara F. Balling RGuerrini RZara F.
Nat Genet
Nature genetics 47(4), 393-399 (2015). doi:10.1038/ng.3239
Nature Genetics, Vol. 47, No 4 (2015) pp. 393-399
Syrbe, S, Hedrich, U B S, Riesch, E, Djémié, T, Müller, S, Møller, R S, Maher, B, Hernandez-Hernandez, L, Synofzik, M, Caglayan, H S, Arslan, M, Serratosa, J M, Nothnagel, M, May, P, Krause, R, Löffler, H, Detert, K, Dorn, T, Vogt, H, Krämer, G, Schöls, L, Mullis, P E, Linnankivi, T, Lehesjoki, A-E, Sterbova, K, Craiu, D C, Hoffman-Zacharska, D, Korff, C M, Weber, Y G, Steinlin, M, Gallati, S, Bertsche, A, Bernhard, M K, Merkenschlager, A, Kiess, W, Gonzalez, M, Züchner, S, Palotie, A, Suls, A, De Jonghe, P, Helbig, I, Biskup, S, Wolff, M, Maljevic, S, Schüle, R, Sisodiya, S M, Weckhuysen, S, Lerche, H, Lemke, J R & EuroEPINOMICS RES Consortium 2015, ' De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy ', Nature Genetics, vol. 47, no. 4, pp. 393–399 . https://doi.org/10.1038/ng.3239
Nature Genetics
Academic Journal
Pollari E; R&D, Orion Pharma Corporation, Turku, Finland.; Tegelberg S; Folkhälsan Research Center and Medicum, Medical Faculty, University of Helsinki, Helsinki, Finland.; Björklund H; R&D, Orion Pharma Corporation, Turku, Finland.; Kälviäinen R; Epilepsy Center, Neuro Center, Kuopio University Hospital, Kuopio, Finland.; Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.; Lehesjoki AE; Folkhälsan Research Center and Medicum, Medical Faculty, University of Helsinki, Helsinki, Finland.; Haapalinna A; R&D, Orion Pharma Corporation, Turku, Finland.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477952 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5153 (Print) Linking ISSN: 16625153 NLM ISO Abbreviation: Front Behav Neurosci Subsets: PubMed not MEDLINE
Academic Journal
Gorski K; Folkhälsan Research Center, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Jackson CB; Department of Biochemistry and Developmental Biology, Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Nyman TA; Department of Immunology, Oslo University Hospital, University of Oslo, Oslo, Norway.; Rezov V; Folkhälsan Research Center, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.; Battersby BJ; Institute of Biotechnology, University of Helsinki, Helsinki, Finland.; Lehesjoki AE; Folkhälsan Research Center, Helsinki, Finland.; Medicum, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101477914 Publication Model: eCollection Cited Medium: Print ISSN: 1662-5099 (Print) Linking ISSN: 16625099 NLM ISO Abbreviation: Front Mol Neurosci Subsets: PubMed not MEDLINE
Academic Journal
Leu, C, de Kovel, C G F, Zara, F, Striano, P, Pezzella, M, Robbiano, A, Bianchi, A, Bisulli, F, Coppola, A, Giallonardo, A T, Beccaria, F, Trenité, D K-N, Lindhout, D, Gaus, V, Schmitz, B, Janz, D, Weber, Y G, Becker, F, Lerche, H, Kleefuss-Lie, A A, Hallman, K, Kunz, W S, Elger, C E, Muhle, H, Stephani, U, Møller, R S, Hjalgrim, H, Mullen, S, Scheffer, I E, Berkovic, S F, Everett, K V, Gardiner, M R, Marini, C, Guerrini, R, Lehesjoki, A-E, Siren, A, Nabbout, R, Baulac, S, Leguern, E, Serratosa, J M, Rosenow, F, Feucht, M, Unterberger, I, Covanis, A, Suls, A, Weckhuysen, S, Kaneva, R, Caglayan, H, Turkdogan, D, Baykan, B & EPICURE Consortium 2012, ' Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies ', Epilepsia, vol. 53, no. 2, pp. 308-318 . https://doi.org/10.1111/j.1528-1167.2011.03379.x
Academic Journal
Human molecular genetics
19 (2010): 4497–4514. doi:10.1093/hmg/ddq381
info:cnr-pdr/source/autori:Sharifi A.; Kousi M.; Sagné C.; Bellenchi G.C.; Morel L.; Darmon M.; Hulková H.; Ruivo R.; Debacker C.; El Mestikawy S.; Elleder M.; Lehesjoki A.E.; Jalanko A.; Gasnier B.; Kyttälä A./titolo:Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis/doi:10.1093%2Fhmg%2Fddq381/rivista:Human molecular genetics (Print)/anno:2010/pagina_da:4497/pagina_a:4514/intervallo_pagine:4497–4514/volume:19
Academic Journal
Dibbens, L M, Mullen, S, Helbig, I, Mefford, H C, Bayly, M A, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, EPICURE Consortium, Sander, T, Eichler, E E, Scheffer, I E, Mulley, J C, Berkovic, S F & Møller, R S 2009, ' Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy : precedent for disorders with complex inheritance ', Human Molecular Genetics, vol. 18, no. 19, pp. 3626-31 . https://doi.org/10.1093/hmg/ddp311
Academic Journal
Everett, K V, Chioza, B, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dulac, O, Eeg-Olofsson, O, Feucht, M, Friis, M, Goutieres, F, Guerrini, R, Heils, A, Kjeldsen, M, Lehesjoki, A-E, Makoff, A, Nabbout, R, Olsson, I, Sander, T, Sirén, A, McKeigue, P, Robinson, R, Taske, N, Rees, M & Gardiner, M 2007, ' Linkage and association analysis of CACNG3 in childhood absence epilepsy ', European Journal of Human Genetics, vol. 15, no. 4, pp. 463-72 . https://doi.org/10.1038/sj.ejhg.5201783
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