학술논문
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'학술논문'
에서 검색결과 992건 | 목록
1~20
Academic Journal
Tham E; Eklund EA; Hammarsjö A; Bengtson P; Geiberger S; Lagerstedt-Robinson K; Malmgren H; Nilsson D; Grigelionis G; Conner P; Lindgren P; Lindstrand A; Wedell A; Albåge M; Zielinska K; Nordgren A; Papadogiannakis N; Nishimura G; Grigelioniene G
European Journal of Human Genetics. 24:198-207
Academic Journal
Lohmann, Katja; Masuho, Ikuo; Patil, Dipak N.; Baumann, Hauke; Hebert, Eva; Steinrücke, Sofia; Trujillano, Daniel; Skamangas, Nickolas K.; Dobricic, Valerija; Hüning, Irina; Gillessen-Kaesbach, Gabriele; Westenberger, Ana; Savic-Pavicevic, Dusanka; Münchau, Alexander; Oprea, Gabriela; Klein, Christine; Rolfs, Arndt; Martemyanov, Kirill A.
Human Molecular Genetics. Mar 15, 2017 26(6):1078-1086
Academic Journal
Williamson, Kathleen A; Hall, H Nikki; Owen, Liusaidh J; Livesey, Benjamin J; Hanson, Isabel M; Adams, G G W; Bodek, Simon; Calvas, Patrick; Castle, Bruce; Clarke, Michael; Deng, Alexander T; Edery, Patrick; Fisher, Richard; Gillessen-Kaesbach, Gabriele; Heon, Elise; Hurst, Jane; Josifova, Dragana; Lorenz, Birgit; McKee, Shane; Meire, Francoise; Moore, Anthony T; Parker, Michael; Reiff, Charlotte M; Self, Jay; Tobias, Edward S; Verheij, Joke B G M; Willems, Marjolaine; Williams, Denise; van Heyningen, Veronica; Marsh, Joseph A; FitzPatrick, David R
Genet Med
Genetics in medicine
Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams,G G W, Bodek, S, Calvas, P, Castle, B, Clarke, M, Deng, A T, Edery, P, Fisher, R, Gillessen -Kaesbach , G , Héon, E, Hurst, J, Josifova, D, Lorenz, B, McKee, S, Meire, F, Moore, A T, Parker, M, Reiff, C, Self, J, Tobias, E S, Verheij, J B G M, Willems, M, Williams, D, Van Heyningen, V, Marsh, J A & FitzPatrick, D R 2019, ' Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0685-9
Genetics in medicine
Williamson, K, Hall, H N, Owen, L, Livesey, B, Hanson, I, Adams,
Academic Journal
So, J.; Suckow, V.; Kijas, Z.; Kalscheuer, V.; Moser, B.; Winter, J.; Baars, M.; Firth, H.; Lunt, P.; Hamel, B.; Meinecke, P.; Moraine, C.; Odent, S.; Schinzel, A.; van der Smagt, J. J.; Devriendt, K.; Albrecht, B.; Gillessen-Kaesbach, G.; van der Burgt, I.; Petrij, F.; Faivre, L.; McGaughran, J.; McKenzie, Fiona; Opitz, J. M.; Cox, T.; Schweiger, S.
American Journal of Medical Genetics. Part A, 132, 1, pp. 1-7
Academic Journal
Andreas Recke; Elisabeth G. Massalme; Uta Jappe; Lars Steinmüller-Magin; Julia Schmidt; Yorck Hellenbroich; Irina Hüning; Gabriele Gillessen-Kaesbach; Detlef Zillikens; Karin Hartmann
Clinical and Translational Allergy, Vol 9, Iss 1, Pp 1-4 (2019)
Academic Journal
Joe Rainger; Kathleen A Williamson; Dinesh C Soares; Julia Truch; Dominic Kurian; Gabriele Gillessen‐Kaesbach; Anne Seawright; James Prendergast; Mihail Halachev; Ann Wheeler; Lynn McTeir; Andrew C Gill; Veronica Heyningen; Megan G Davey; David R FitzPatrick
Hum Mutat
Rainger, J, Williamson, K, Soares, D, Truch, J, Thekkedath Kurian, D,Gillessen -Kaesbach , G , Seawright, A, Prendergast, J, Halachev, M, Wheeler, A, McTeir, L, Gill, A, Van Heyningen, V, Davey, M & FitzPatrick, D R 2017, ' A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma ', Human Mutation, vol. 38, no. 8, pp. 942-946 . https://doi.org/10.1002/humu.23246
Rainger, J, Williamson, K, Soares, D, Truch, J, Thekkedath Kurian, D,
Academic Journal
Niceta, M; Stellacci, E; Gripp, Kw; Zampino, G; Kousi, M; Anselmi, M; Traversa, A; Ciolfi, A; Stabley, D; Bruselles, A; Caputo, V; Cecchetti, S; Prudente, S; Fiorenza, Mt; Boitani, C; Philip, N; Niyazov, D; Leoni, C; Nakane, T; Keppler Noreuil, K; Braddock, Sr; Gillessen Kaesbach, G; PALLESCHI, ANTONIO; Campeau, Pm; Lee, Bhl; Pouponnot, C; STELLA, LORENZO; BOCCHINFUSO, GIANFRANCO; Katsanis, N; Sol Church, K; Tartaglia, M.
Am J Hum Genet
Academic Journal
Mulder, P.A.; Huisman, S.; Landlust, A.M.; Moss, Jo; Piening, S.; Hennekam, R.C.; van Balkom, I.D.C.; Bader, I.; Bisgaard, A.-M.; Brooks, A.; Cereda, A.; Cinca, C.; Clark, D.; Cormier-Daire, V.; Deardorff, M.A.; Diderich, K.; Elting, M.; van Essen, A.; Fitzpatrick, D.; Gervasini, C.; Gillessen-Kaesbach, G.; Girisha, K.M.; Hilhorst-Hofstee, Y.; Hopman, S.; Horn, D.; Isrie, M.; Jansen, S.; Jespersgaard, C.; Kaiser, F.J.; Kaur, M.; Kleefstra, T.; Krantz, I.D.; Lakeman, P.; Lessel, D.; Michot, C.; Noon, S.E.; Oliver, C.; Parenti, I.; Pie-Juste, J.; Puisac, B.; Ramos, F.J.; Redeker, E.; Rieubland, C.; Russo, S.; Selicorni, A.; Tümer, Z.; Vorstenbosch, R.; de Vries, I.M.; Wenger, T.L.; Wierzba, J.
SMC1A Consortium 2019, 'Development, behaviour and autism in individuals with SMC1A variants', Journal of Child Psychology and Psychiatry and Allied Disciplines, vol. 60, no. 3, pp. 305-313. https://doi.org/10.1111/jcpp.12979
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 3, pp. 305-313
SMC1A Consortium 2019, ' Development, behaviour and autism in individuals with SMC1A variants ', Journal of Child Psychology and Psychiatry and Allied Disciplines, vol. 60, no. 3, pp. 305-313 . https://doi.org/10.1111/jcpp.12979
Journal of Child Psychology and Psychiatry and Allied Disciplines, 60, 3, pp. 305-313
SMC1A Consortium 2019, ' Development, behaviour and autism in individuals with SMC1A variants ', Journal of Child Psychology and Psychiatry and Allied Disciplines, vol. 60, no. 3, pp. 305-313 . https://doi.org/10.1111/jcpp.12979
Academic Journal
Pozojevic, Jelena ; Parenti, Ilaria ; Graul-Neumann, Luitgard ; Ruiz Gil, Sara ; Watrin, Erwan ; Wendt, Kerstin S. ; Werner, Ralf ; Strom, Tim M. ; Gillessen-Kaesbach, Gabriele ; Kaiser, Frank J.
In European Journal of Medical Genetics November 2018 61(11):680-684
Academic Journal
G. Gillessen‐Kaesbach; B. Albrecht; T. Eggermann; M. Elbracht; D. Mitter; S. Morlot; C.M.A. van Ravenswaaij‐Arts; S. Schulz; G. Strobl‐Wildemann; K. Buiting; J. Beygo
Clinical Genetics. 93:1179-1188
Academic Journal
Ehmke, Nadja; Caliebe, Almuth; Koenig, Rainer; Kant, Sarina G.; Stark, Zornitza L.; Cormier-Dairé, Valérie; Wieczorek, Dagmar; Gillessen- Kaesbach, Gabriele; Hoff, Kirstin; Kawalia, Amit; Thiele, Holger; Altmüller, Janine; Fischer-Zirnsak, Björn; Knaus, Alexej; Zhu, Na; Heinrich, Verena; Huber, Céline; Harabula, Izabela; Spielmann, Malte; Horn, Denise; Kornak, Uwe; Hecht, Jochen E.; Krawitz, Peter M.; Nürnberg, Peter; Siebert, Reiner; Manzke, Hermann; Mundlos, Stefan
The American Journal of Human Genetics
Academic Journal
Movement Disorders Clinical Practice. 7:91-93
Academic Journal
Twigg SRF; Lloyd D; Jenkins D; Elcioglu NE; Cooper CDO; Al-Sannaa N; Annagur A; Gillessen-Kaesbach G; Huning I; Knight SJL; Goodship JA; Keavney BD; Beales PL; Gileadi O; McGowan SJ; Wilkie AOM
The American Journal of Human Genetics; Vol 91
Twigg, S R F, Lloyd, D, Jenkins, D, Elçioglu, N E, Cooper, C D O, Al-Sannaa, N, Annagür, A,Gillessen -Kaesbach , G , Hüning, I, Knight, S J L, Goodship, J A, Keavney, B D, Beales, P L, Gileadi, O, McGowan, S J & Wilkie, A O M 2012, 'Mutations in multidomain protein MEGF8 identify a carpenter syndrome subtype associated with defective lateralization', American Journal of Human Genetics, vol. 91, no. 5, pp. 897-905. https://doi.org/10.1016/j.ajhg.2012.08.027
American Journal of Human Genetics
Twigg, S R F, Lloyd, D, Jenkins, D, Elçioglu, N E, Cooper, C D O, Al-Sannaa, N, Annagür, A,
American Journal of Human Genetics
Academic Journal
Hu, H.; Haas, S. A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A. P. M.; Weinert, S.; Froyen, G.; Frints, S. G. M.; Laumonnier, F.; Zemojtel, T.; Love, M. I.; Richard, H.; Emde, A-K; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M. A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K. L.; Belet, S.; van Roozendaal, K. E. P.; Jimenez-Pocquet, M.; Moizard, M-P; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Van Boemmel, A.; Goeke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Mueller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L. B.; Wieacker, P.; Criado, G. Rodriguez; Bondeson, Marie-Louise; Annerén, Göran; Dufke, A.; Cohen, M.; Van Maldergem, L.; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.; Fryns, J-P; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T. F.; Tzschach, A.; van Bokhoven, H.; Gecz, J.; Jentsch, T. J.; Chen, W.; Ropers, H-H; Kalscheuer, V. M.
Molecular Psychiatry. 21(1):133-148
Academic Journal
Parenti, I.; Gervasini, C.; Pozojevic, J.; Wendt, K. S.; Watrin, E.; Azzollini, J.; Braunholz, D.; Buiting, K.; Cereda, A.; Engels, H.; Garavelli, L.; Glazar, R.; Graffmann, B.; Larizza, L.; Luedecke, H. J.; Mariani, M.; Masciadri, M.; Pie, J.; Ramos, F. J.; Russo, S.; Selicorni, A.; Stefanova, Margarita; Strom, T. M.; Werner, R.; Wierzba, J.; Zampino, G.; Gillessen-Kaesbach, G.; Wieczorek, D.; Kaiser, F. J.
Clinical Genetics. 89(5):564-573
Academic Journal
Koolen DA; Pfundt R; Linda K; Beunders G; Veenstra Knol HE; Conta JH; Fortuna AM; Gillessen Kaesbach G; Dugan S; Halbach S; Abdul Rahman OA; Winesett HM; Chung WK; Dalton M; Dimova PS; MATTINA, Teresa; Prescott K; Zhang HZ; Saal HM; Hehir Kwa JY; Willemsen MH; Ockeloen CW; Jongmans MC; Van der Aa N; Failla P; Barone C; Avola E; Brooks AS; Kant SG; Gerkes EH; Firth HV; Õunap K; Bird LM; Masser Frye D; Friedman JR; Sokunbi MA; Dixit A; Splitt M; DDD Study; Kukolich MK; McGaughran J; Coe BP; Flórez J; Nadif Kasri N; Brunner HG; Thompson EM; Gecz J; Romano C; Eichler EE; de Vries B.B.
European Journal of Human Genetics, 24, 5, pp. 652-9
European journal of human genetics
European Journal of Human Genetics, vol 24, iss 5
European journal of human genetics
European Journal of Human Genetics, vol 24, iss 5
Academic Journal
Hussain Muhammad Sajid; Battaglia Agatino; Szczepanski Sandra; Kaygusuz Emrah; Toliat Mohammad Reza; Sakakibara Shin-Ichi; Altmüller Janine; Thiele Holger; Nürnberg Gudrun; Moosa Shahida; Yigit Gökhan; Beleggia Filippo; Tinschert Sigrid; Clayton-Smith Jill; Vasudevan Pradeep; Urquhart Jill E.; Donnai Dian; Fryer Alan; Percin Ferda; Brancati Francesco; Dobbie Angus; Smigiel Robert; Gillessen-Kaesbach Gabriele; Wollnik Bernd; Anna Noegel Angelika; Newman William G.; Nürnberg Peter
Hussain, M S, Battaglia, A, Szczepanski, S, Kaygusuz, E, Toliat, M R, Sakakibara, S, Altmüller, J, Thiele, H, Nürnberg, G , Moosa, S, Yigit, G , Beleggia, F, Tinschert, S, Clayton-Smith, J, Vasudevan, P, Urquhart, J E, Donnai, D, Fryer, A, Percin, F, Brancati, F, Dobbie, A, Smigiel, R, Gillessen -Kaesbach , G , Wollnik, B, Noegel, A A, Newman, W G & Nürnberg, P 2014, 'Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.', American Journal of Human Genetics, vol. 95, no. 5. https://doi.org/10.1016/j.ajhg.2014.10.008
Academic Journal
J, Tübing; J, Bohnenpoll; J, Spiegler; G, Gillessen-Kaesbach; T, Bäumer; C, Max; J, Sperner; C, Klein; A, Münchau
Movement Disorders Clinical Practice. 5:343-345
Academic Journal
J. K. J; B. A. Nowakowska; S. B. Sousa; B. D. C; E. Seuntjens; N. Avonce; A. Sifrim; O. A. Abdul Rahman; M. H. van; A. Bottani; M. Castori; V. Cormier Daire; M. A. Deardorff; I. Filges; A. Fryer; J. Fryns; S. Gana; L. Garavelli; G. Gillessen Kaesbach; B. D. Hall; D. Horn; D. Huylebroeck; J. Klapecki; M. Krajewska Walasek; A. Kuechler; M. A. Lines; S. Maas; K. D. Macdermot; S. McKee; A. Magee; S. A. de; Y. Moreau; F. Morice Picard; E. Obersztyn; J. Pilch; E. Rosser; N. Shannon; I. Stolte Dijkstra; P. V. Dijck; C. Vilain; A. Vogels; E. Wakeling; D. Wieczorek; L. Wilson; A. H. C; K. Devriendt; R. Hennekam; J. R. Vermeesch; ZUFFARDI, ORSETTA
Nature Genetics. 44:445-449
Academic Journal
Nagy, R.; Wang, H.; Albrecht, B.; Wieczorek, D.; Gillessen-Kaesbach, G.; Haan, E.; Meinecke, P.; de la Chapelle, A.; Westman, J.
Clinical Genetics. 82:140-146
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