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 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
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
Academic Journal
Epi25 Collaborative; Feng YA; Howrigan DP; Abbott LE; Tashman K; Cerrato F; Singh T; Heyne H; Byrnes A; Churchhouse C; Watts N; Solomonson M; Lal D; Heinzen EL; Dhindsa RS; Stanley KE; Cavalleri GL; Hakonarson H; Helbig I; Krause R; May P; Weckhuysen S; Petrovski S; Kamalakaran S; Sisodiya SM; Cossette P; Cotsapas C; De Jonghe P; Dixon-Salazar T; Guerrini R; Kwan P; Marson AG; Stewart R; Depondt C; Dlugos DJ; Scheffer IE; Striano P; Freyer C; McKenna K; Regan BM; Bellows ST; Leu C; Bennett CA; Johns EMC; Macdonald A; Shilling H; Burgess R; Weckhuysen D; Bahlo M; O'Brien TJ; Todaro M; Stamberger H; Andrade DM; Sadoway TR; Mo K; Krestel H; Gallati S; Papacostas SS; Kousiappa I; Tanteles GA; Štěrbová K; Vlčková M; Sedláčková L; Laššuthová P; Klein KM; Rosenow F; Reif PS; Knake S; Kunz WS; Zsurka G; Elger CE; Bauer J; Rademacher M; Pendziwiat M; Muhle H; Rademacher A; van Baalen A; von Spiczak S; Stephani U; Afawi Z; Korczyn AD; Kanaan M; Canavati C; Kurlemann G; Müller-Schlüter K; Kluger G; Häusler M; Blatt I; Lemke JR; Krey I; Weber YG; Wolking S; Becker F; Hengsbach C; Rau S; Maisch AF; Steinhoff BJ; Schulze-Bonhage A; Schubert-Bast S; Schreiber H; Borggräfe I; Schankin CJ; Mayer T; Korinthenberg R; Brockmann K; Dennig D; Madeleyn R; Kälviäinen R; Auvinen P; Saarela A; Linnankivi T; Lehesjoki AE; Rees MI; Chung SK; Pickrell WO; Powell R; Schneider N; Balestrini S; Zagaglia S; Braatz V; Johnson MR; Auce P; Sills GJ; Baum LW; Sham PC; Cherny SS; Lui CHT; Barišić N; Delanty N; Doherty CP; Shukralla A; McCormack M; El-Naggar H; Canafoglia L; Franceschetti S; Castellotti B; Granata T; Zara F; Iacomino M; Madia F; Vari MS; Mancardi MM; 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 LG; King C; Mountier E; Caglayan SH; Arslan M; Yapıcı Z; Yis U; Topaloglu P; Kara B; Turkdogan D; Gundogdu-Eken A; Bebek N; Uğur-İşeri S; Baykan B; Salman B; Haryanyan G; Yücesan E; Kesim Y; Özkara Ç; Poduri A; Shiedley BR; Shain C; Buono RJ; Ferraro TN; Sperling MR; Lo W; Privitera M; French JA; Schachter S; Kuzniecky RI; Devinsky O; Hegde M; Khankhanian P; Helbig KL; Ellis CA; Spalletta G; Piras F; Gili T; Ciullo V; Reif A; McQuillin A; Bass N; McIntosh A; Blackwood D; Johnstone M; Palotie A; Pato MT; Pato CN; Bromet EJ; Carvalho CB; Achtyes ED; Azevedo MH; Kotov R; Lehrer DS; Malaspina D; Marder SR; Medeiros H; Morley CP; Perkins DO; Sobell JL; Buckley PF; Macciardi F; Rapaport MH; Knowles JA; Fanous AH; McCarroll SA; Gupta N; Gabriel SB; Daly MJ; Lander ES; Lowenstein DH; Goldstein DB; Lerche H; Berkovic SF; Neale 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
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.;
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, HO; Helbig, KL; Tang, S; Willing, MC; Tinkle, BT; Adams, DJ; Depienne, C; Keren, B; Mignot, C; Frengen, E; Strømme, P; Biskup, S; Döcker, D; Strom, TM; Mefford, HC; Myers, CT; Muir, AM; LaCroix, A; Sadleir, L; Scheffer, IE; Brilstra, E; van Haelst, MM; van der Smagt, JJ; Bok, LA; Møller, RS; Jensen, UB; Millichap, JJ; Berg, AT; Goldberg, EM; De Bie, I; Fox, S; Major, P; Jones, JR; Zackai, EH; Abou Jamra, R; Rolfs, A; Leventer, RJ; Lawson, JA; Roscioli, T; Jansen, FE; Ranza, E; Korff, CM; Lehesjoki, AE; Courage, C; Linnankivi, T; Smith, DR; Stanley, C; Mintz, M; McKnight, D; Decker, A; Tan, WH; Tarnopolsky, MA; Brady, LI; Wolff, M; Dondit, L; Pedro, HF; Parisotto, SE; Jones, KL; Patel, AD; Franz, DN; Vanzo, R; Marco, E; Ranells, JD; Di Donato, N; Dobyns, WB; Laube, B; Traynelis, SF; Lemke, JR
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
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,
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,
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, Steffen; Hedrich; Ulrike B. S.; Riesch, Erik; Djémié, Tania; Müller, Stephan; Møller; Rikke S.; Maher, Bridget; Hernandez Hernandez; Laura, Synofzik; Matthis, Caglayan; Hande S.; Arslan, Mutluay; Serratosa; José M.; Nothnagel, Michael; May, Patrick; Krause, Roland; Löffler, Heidrun; Detert, Katja; Dorn, Thomas; Vogt, Heinrich; Krämer, Günter; Schöls, Ludger; Mullis; Primus E.; Linnankivi, Tarja; Lehesjoki; Anna Elina; Sterbova, Katalin; Craiu; Dana C.; Hoffman Zacharska; Dorota, Korff; Christian M.; Weber; Yvonne G.; Steinlin, Maja; Gallati, Sabina; Bertsche, Astrid; Bernhard; Matthias K.; Merkenschlager, Andreas; Kiess, Wieland; Gonzalez, Michael; Züchner, Stephan; Palotie, Aarno; Suls, Arvid; De Jonghe; Peter, Helbig; Ingo, Biskup; Saskia, Wolff; Markus, Maljevic; Snezana, Schüle; Rebecca, Sisodiya; Sanjay M.; Weckhuysen, Sarah; Lerche, Holger; Lemke; Johannes R. Collaborators Balling R; Barisic N; Baulac S; Caglayan HS; Craiu DC; De Jonghe P; Depienne C; Gormley P; GUERRINI, RENZO; Helbig I; Hjalgrim H; Hoffman Zacharska D; Jähn J; Klein KM; Koeleman BP; Komarek V; Krause R; LeGuern E; Lehesjoki AE; Lemke JR; Lerche H; Marini C; May P; Møller RS; Muhle H; Palotie A; Pal D; Rosenow F; Selmer K; Serratosa JM; Sisodiya SM; Stephani U; Sterbova K; Striano P; Suls A; Talvik T; von Spiczak S; G. Weber Y; Weckhuysen S; Zara F. Balling R; Guerrini R; Zara 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
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,
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
Coppola G; Criscuolo C; DE MICHELE, GIUSEPPE; STRIANO, SALVATORE; BARBIERI, FABRIZIO; Striano P; PERRETTI, ANNA CARMELA AGNESE; SANTORO, LUCIO; BRESCIA MORRA, VINCENZO; SACCA', FRANCESCO; Scarano V; D'Adamo AP; Banfi S; Gasparini P; Santorelli FM; Lehesjoki AE; FILLA, ALESSANDRO
Journal of Neurology. 252:897-900
Academic Journal
JOENSUU T; HAMALAINEN R; YUAN B; JOHNSON C; TEGELBERG S; GASPARINI, PAOLO; ZELANTE L; PIRVOLA U; PAKARINEN L; LEHESJOKI AE; DE LA CHAPELLE A; SANKILA EM
The American Journal of Human Genetics. 69:673-684
Academic Journal
Karlinger, Kinga; Tárnoki, Ádám Domonkos; Tárnoki, Dávid László; Polvi A; Lehesjoki AE; Kelemen A; Szegedi L; Turányi, Eszter; Kamondi, Anita; Szűcs, Anna
Journal of Neurology. 261:1911-1916
Academic Journal
Becker F; Schubert J; STRIANO, PASQUALE; Anttonen AK; Liukkonen E; Gaily E; Gerloff C; Müller S; Heußinger N; Kellinghaus C; Robbiano A; Polvi A; Zittel S; von Oertzen TJ; Rostasy K; Schöls L; Warner T; Münchau A; Lehesjoki AE; Zara F; Lerche H; Weber YG
Journal of neurology 260(5), 1234-1244 (2013). doi:10.1007/s00415-012-6777-y
Academic Journal
Striano P; Weber YG; Toliat MR; Schubert J; Leu C; Chaimana R; Baulac S; Guerrero R; Leguern E; Lehesjoki AE; Polvi A; Robbiano A; Serratosa JM; Guerrini R; N?rnberg P; Sander T; Zara F; Lerche H; Marini C; EPICURE Consortium; DEL GIUDICE, ENNIO
Neurology. 78:557-562
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 CG; Zara F; Striano P; Pezzella M; Robbiano A; Bianchi A; Bisulli F; Coppola A; Giallonardo AT; Beccaria F; Trenité DK; Lindhout D; Gaus V; Schmitz B; Janz D; Weber YG; Becker F; Lerche H; Kleefuss Lie AA; Hallman K; Kunz WS; Elger CE; Muhle H; Stephani U; Møller RS; Hjalgrim H; Mullen S; Scheffer IE; Berkovic SF; Everett KV; Gardiner MR; Marini C; Guerrini R; Lehesjoki AE; Siren A; Nabbout R; Baulac S; Leguern E; Serratosa JM; Rosenow F; Feucht M; Unterberger I; Covanis A; Suls A; Weckhuysen S; Kaneva R; Caglayan H; Turkdogan D; Baykan B; Bebek N; Ozbek U; Hempelmann A; Schulz H; Rüschendorf F; Trucks H; Nürnberg P; Avanzini G; Koeleman BP; Sander T; EPICURE Consortium; DEL GIUDICE, ENNIO; COPPOLA, ANTONIETTA
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
Sharifi A; Kousi M; Sagné C; Bellenchi GC; Morel L; Darmon M; Hulková H; Ruivo R; Debacker C; El Mestikawy S; Elleder M; Lehesjoki AE; Jalanko A; Gasnier B; Kyttälä A
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
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.;
Academic Journal
Daura E; Tegelberg S; Yoshihara M; Jackson C; Simonetti F; Aksentjeff K; Ezer S; Hakala P; Katayama S; Kere J; Lehesjoki AE; Joensuu T
Neurobiology of Disease, Vol 156, Iss, Pp 105418-(2021)
Academic Journal
Dibbens, LM; Mullen, S; Helbig, I; Mefford, HC; Bayly, MA; Bellows S; Leu C; Trucks, H; Obermeier, T; Wittig, M; Franke, A; Caglayan, H; Yapici, Z; Sander, T; Eichler, EE; Scheffer, IE; Mulley, JC; Berkovic, SF; De Jonghe, P; Suls, A; Hjalgrim, H; Madsen, JM; Møller, RS; Lehesjoki, AE; Siren, A; Gaus, V; Janz, D; Schmitz, B; Elger, CE; Hallmann, K; Kleefuß-Lie, AA; Kunz, WS; Raabe, A; Muhle, H; Ostertag, P; von Spiczak, S; Stephani, U; Lerche, H; Weber, YG; Striano, P; Zara, F; Marini, C; Brilstra, EH; Kastelijn-Nolst Trenité; D Koeleman; BPC; de Kovel, CGF; Lindhout, D; Swinkels, MEM; Yalcin, O; Baykan, B; Turkdogan, D; Dizdarer, G; Ozkara, C; Lee, Y; Müller-Quernheim, J; Fölster-Holst, R; Hofmann, S; Nebel, A.; Schreiber, S; Schürmann, M; Rodriguez, E; Weidinger S; Baurecht H; Lie, BA; Boberg, KM; Karlsen, TH.
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 KV; Chioza B; Aicardi J; Aschauer H; Brouwer O; Callenbach P; Covanis A; Dulac O; Eeg Olofsson O; Feucht M; Friis M; Goutieres F; GUERRINI, RENZO; Heils A; Kjeldsen M; Lehesjoki AE; Makoff A; Nabbout R; Olsson I; Sander T; Sirén A; McKeigue P; Robinson R; Taske N; Rees M; Gardiner M.
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
검색 결과 제한하기
제한된 항목
[검색어] Lehesjoki, AE
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어