학술논문
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'학술논문'
에서 검색결과 404건 | 목록
1~20
Academic Journal
Ranta, S; de, Kovel M; Olivieri, M; Fischer, K; Castaman, G; Koenigs, C; Oldenburg, J; Pergantou, H; Male, C; van, den Berg HM
HAEMATOLOGICA. 111(2):733-737
Academic Journal
Mendoza, A; Rivas, I; Hidalgo, OB; Cid, AR; Olivieri, M; Ranta, S; Labarque, V; Andersson, NG; de, Kovel M; Alvarez-Roman, MT
HAEMOPHILIA. 31(4):679-686
Academic Journal
Ranta, S; Motwani, J; Blatny, J; Buehrlen, M; Carcao, M; Chambost, H; Escuriola, C; Fischer, K; Kartal-Kaess, M; de, Kovel M
HAEMOPHILIA. 29(5):1291-1298
Academic Journal
Mutlu Kartal-Kaess; Fernando Pinto; Veerle Labarque; Marloes de Kovel; Beatrice Nolan; Manuel Carcao; Roseline d’Oiron; Torben Stamm Mikkelsen; Rolf Ljung; Nadine G. Andersson; MT Alvarèz Román; O Benitez Hidalgo; J. Blatny; M. Bührlen; M. Carvalho; H. Chambost; A Rosa Cid; C. Oudot; C. Escuriola-Ettingshausen; K. Fischer; V. Labarque; H. Knudsen; N Gretenkort Andersson; R. Ljung; C. Königs; M. Koskenvuo; C. Male; T Stamm Mikkelsen; A. Molinari; J. Motwani; B. Nolan; R. d’Oiron; J. Oldenburg; M. Olivieri; H. Pergantou; F. Pinto; S. Ranta; M. Kartal-Kaess; E. Zápotocká; G. Kenet; M. Carcao; G. Rivard
Pediatric Network on Hemophilia Management (PedNet) Study Group 2025, 'Hemophilia B Leyden : characteristics and natural history in the International Pediatric Network of Hemophilia Management Registry', Journal of Thrombosis and Haemostasis, vol. 23, no. 3, pp. 921-927. https://doi.org/10.1016/j.jtha.2024.12.020
Academic Journal
Michalopoulou, A; Ranta, S; Andersson, NG; Fischer, K; de, Kovel M; de, Boer-Verdonk E; Motwani, J; Kenet, G; Pergantou, H
HAEMOPHILIA. 31(6):1209-1216
Academic Journal
de, Kovel M; van, Haaster A-C; Carcao, M; Ranta, S; Glosli, H; Rivard, GE; Kenet, G; Kurnik, K; Van, Geet C; Carvalho, M
HAEMOPHILIA. 31(3):419-423
Academic Journal
Marloes S. de Kovel; Carmen Escuriola-Ettingshausen; Christoph Königs; Susanna Ranta; Kathelijn Fischer; M.T. Alvarèz Román; O. Benitez Hidalgo; J. Blatny; M. Bührlen; M. Carvalho; H. Chambost; A. Rosa Cid; C. Oudot; C. Escuriola-Ettingshausen; K. Fischer; C. Van Geet; H. Glosli; N. Gretenkort Andersson; R. Ljung; C. Königs; M. Koskenvuo; C. Male; T. Stamm Mikkelsen; A. Molinari; J. Motwani; B. Nolan; R. d’Oiron; J. Oldenburg; M. Olivieri; H. Pergantou; F. Pinto; S. Ranta; M. Kartal-Kaess; E. Zápotocká; G. Kenet; M. Carcao; G. Rivard
Academic Journal
Heyne H. O.; Singh T.; Stamberger H.; Abou Jamra R.; Caglayan H.; Craiu D.; De Jonghe P.; Guerrini R.; Helbig K. L.; Koeleman B. P. C.; Kosmicki J. A.; Linnankivi T.; May P.; Muhle H.; Moller R. S.; Neubauer B. A.; Palotie A.; Pendziwiat M.; Striano P.; Tang S.; Wu S.; Afawi Z.; De Kovel C.; Dimova P.; Djemie T.; Endziniene M.; Hoffman-Zacharska D.; Jahn J.; Korff C.; Lehesjoki A. -E.; Marini C.; Muller S. H.; Pal D.; Schwarz N.; Selmer K.; Serratosa J.; Stephani U.; Sterbova K.; Suls A.; Nishizaki S.; Talvik I.; Von Spiczak S.; Zara F.; Poduri A.; Weber Y. G.; Weckhuysen S.; Sisodiya S. M.; Daly M. J.; Helbig I.; Lal D.; Lemke J. R.
Nature Genetics, Vol. 50, No 7 (2018) pp. 1048-1053
Nature Genetics
bioRxiv. Cold Spring Harbor Labs Journals (2017).
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D,De Jonghe, P, Guerrini, R, Helbig, K L, Koeleman, B P C, Kosmicki, J A, Linnankivi, T, May, P, Muhle, H, Møller, R S, Neubauer, B A, Palotie, A, Pendziwiat, M , Striano, P, Tang, S, Wu, S, Afawi, Z, De Kovel , C, Dimova, P, Djémié, T, Endziniene, M , Hoffman-Zacharska, D, Jähn, J, Korff, C, Lehesjoki, A E, Marini, C, Müller, S H, Pal, D, Schwarz, N, Selmer, K, Serratosa, J, Stephani, U, Štěrbová, K, Suls, A, Syrbe, S, Talvik, I, Tang, S, Von Spiczak, S, Zara, F, Poduri, A, Weber, Y G, Weckhuysen, S, Sisodiya, S M , Daly, M J & Helbig, I 2018, ' De novo variants in neurodevelopmental disorders with epilepsy ', Nature Genetics, vol. 50, no. 7, pp. 1048-1053 . https://doi.org/10.1038/s41588-018-0143-7
Nature Genetics
bioRxiv. Cold Spring Harbor Labs Journals (2017).
Heyne, H O, Singh, T, Stamberger, H, Abou Jamra, R, Caglayan, H, Craiu, D,
Academic Journal
de Lange, Iris M; Helbig, Katherine L.; Weckhuysen, Sarah; Møller, Rikke S.; Velinov, Milen; Dolzhanskaya, Natalia; Marsh, Eric; Helbig, Ingo; Devinsky, Orrin; Tang, Sha; Mefford, Heather C.; Myers, Candace T.; van Paesschen, Wim; STRIANO, PASQUALE; van Gassen, Koen; van Kempen, Marjan; de Kovel, Carolien G. F.; Piard, Juliette; Minassian, Berge A.; Nezarati, Marjan M.; Pessoa, André; Jacquette, Aurelia; Maher, Bridget; Balestrini, Simona; Sisodiya, Sanjay; Warde, Marie Therese Abi; De St Martin, Anne; Chelly, Jamel; van 't Slot, Ruben; Van Maldergem, Lionel; Brilstra, Eva H.; Koeleman, Bobby P. C.; Craiu, Dana; Davila, Carol; Obregia, Alexandru; De Jonghe, Peter; Guerrini, Renzo; Lehesjoki, Anna Elina; Marini, Carla; Muhle, Hiltrud; Neubauer, Bernd; Pal, Deb; Selmer, Kaja; Stephani, Ulrich; Sterbova, Katalin; Talvik, Tiina; von Spiczak, Sarah; Caglayan, Hande; Weber, Yvonne; Hoffman Zacharska, Dorota
J Med Genet
Journal of Medical Genetics
Journal of medical genetics
de Lange, I M , Helbig, K L, Weckhuysen, S, Møller, R S, Velinov, M , Dolzhanskaya, N, Marsh, E, Helbig, I, Devinsky, O, Tang, S, Mefford, H C, Myers, C T, van Paesschen, W, Striano, P, van Gassen, K, van Kempen, M , de Kovel , C G F, Piard, J, Minassian, B A, Nezarati, M M , Pessoa, A, Jacquette, A, Maher, B, Balestrini, S, Sisodiya, S, Warde, M T A, De St Martin, A, Chelly, J, EuroEPINOMICS-RES MAE working group, van 't Slot, R, Van Maldergem, L, Brilstra, E H & Koeleman, B P C 2016, ' De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy ', Journal of Medical Genetics, vol. 53, no. 12, pp. 850-858 . https://doi.org/10.1136/jmedgenet-2016-103909
Journal of Medical Genetics
Journal of medical genetics
Academic Journal
De Kovel, C.; Meisler, M.; Brilstra, E.; van Berkestijn, F.; van 't Slot, R.; van Lieshout, S.; Nijman, I.; O'Brien, J.; Hammer, M.; Estacion, M.; Waxman, S.; Dib-Hajj, S.; Koeleman, B.
Epilepsy Research
Academic Journal
Barg, A.; De Kovel, M.; Pergantou, H.; D'Oiron, R.; Nolan, B.; Escuriola-Ettingshausen, C.; Fischer, K.; Gretenkort Andersson, N.; Glosli, H.; Alvarez-Román, M.; Motwani, J.; Kenet, G.; Male, C.
Research and Practice in Thrombosis and Haemostasis. 7
Academic Journal
de Kovel, C. G. F.; Aftanas, L.; Aleman, A.; Alexander-Bloch, A. F.; Baune, B. T.; Brack, I.; Bülow, R.; Busatto Filho, G.; Carballedo, A.; Connolly, C. G.; Cullen, K. R.; Dannlowski, U.; Davey, C. G.; Dima, D.; Dohm, K.; Erwin-Grabner, T.; Frodl, T.; Fu, C. H. Y.; Hall, G.; Glahn, D. C.; Godlewska, B.; Gotlib, I. H.; Goya-Maldonado, R.; Grabe, H. J.; Groenewold, N. A.; Grotegerd, D.; Gruber, O.; Harris, M. A.; Harrison, B. J.; Hatton, S. N.; Hickie, I. B.; Ho, T. C.; Jahanshad, N.; Kircher, T.; Krämer, B.; Krug, A.; Lagopoulos, J.; Leehr, E. J.; Li, M.; MacMaster, F. P.; Macqueen, G.; McIntosh, A. M.; McLellan, Q.; Medland, S. E.; Mueller, B. A.; Nenadić, I.; Osipov, E.; Papmeyer, M.; Portella, M. J.; Reneman, L.; Rosa, P. G.; Sacchet, M. D.; Schnell, K.; Schrantee, A.; Sim, K.; Simulionyte, E.; Sindermann, L.; Singh, A.; Stein, D. J.; Ubani, B. N.; van der Wee, N. J. A.; Van der Werff, S. J. A.; Veer, I. M.; Vives-Gilabert, Y.; Völzke, H.; Walter, H.; Walter, M.; Schreiner, M. W.; Whalley, H. C.; Winter, N.; Wittfeld, K.; Yang, T. T.; Yüksel, D.; Zaremba, D.; Thompson, P. M.; Veltman, D. J.; Schmaal, L.; Francks, C.
American Journal of Psychiatry
de Kovel , C G F, Aftanas, L, Aleman, A, Alexander-Bloch, A F, Baune, B T, Brack, I, Bülow, R, Filho, G B, Carballedo, A, Connolly, C G, Cullen, K R, Dannlowski, U, Davey, C G, Dima, D, Dohm, K, Erwin-Grabner, T, Frodl, T, Fu, C H Y, Hall, G B, Glahn, D C, Godlewska, B, Gotlib, I H, Goya-Maldonado, R, Grabe, H J R, Groenewold, N A, Grotegerd, D, Gruber, O, Harris, M A, Harrison, B J, Hatton, S N, Hickie, I B, Ho, T C, Jahanshad, N, Kircher, T, Krämer, B, Krug, A, Lagopoulos, J, Leehr, E J, Li, M , MacMaster, F P, MacQueen, G, McIntosh, A M , McLellan, Q, Medland, S E, Mueller, B A, Nenadic, I, Osipov, E, Papmeyer, M , Portella, M J, Reneman, L, Rosa, P G P, Sacchet, M D, Schnell, K, Schrantee, A, Sim, K, Simulionyte, E, Sindermann, L, Singh, A, Stein, D J, Ubani, B N, van der Wee, N J A, van der Werff, S J A, Veer, I M , Vives-Gilabert, Y, Völzke, H, Walter, H, Walter, M , Schreiner, M W, Whalley, H, Winter, N, Wittfeld, K, Yang, T T, Yüksel, D, Zaremba, D, Thompson, P M , Veltman, D J, Schmaal, L & Francks, C 2019, 'No alterations of brain structural asymmetry in major depressive disorder: An ENIGMA consortium analysis', American Journal of Psychiatry, vol. 176, no. 12, pp. 1039-1049. https://doi.org/10.1176/appi.ajp.2019.18101144
The American journal of psychiatry 176(12), 1039-1049 (2019). doi:10.1176/appi.ajp.2019.18101144
De Kovel , C G F, Aftanas, L, Aleman, A, Alexander-bloch, A F, Baune, B T, Brack, I, Bülow, R, Busatto Filho, G, Carballedo, A, Connolly, C G, Cullen, K R, Dannlowski, U, Davey, C G, Dima, D, Dohm, K, Erwin-grabner, T, Frodl, T, Fu, C H Y, Hall, G B, Glahn, D C, Godlewska, B, Gotlib, I H, Goya-maldonado, R, Grabe, H J, Groenewold, N A, Grotegerd, D, Gruber, O, Harris, M A, Harrison, B J, Hatton, S N, Hickie, I B, Ho, T C, Jahanshad, N, Kircher, T, Krämer, B, Krug, A, Lagopoulos, J, Leehr, E J, Li, M , Macmaster, F P, Macqueen, G, Mcintosh, A M , Mclellan, Q, Medland, S E, Mueller, B A, Nenadic, I, Osipov, E, Papmeyer, M , Portella, M J, Reneman, L, Rosa, P G P, Sacchet, M D, Schnell, K, Schrantee, A, Sim, K, Simulionyte, E, Sindermann, L, Singh, A, Stein, D J, Ubani, B N, Van Der Wee, N J A, Van Der Werff, S J A, Veer, I M , Vives-gilabert, Y, Völzke, H, Walter, H, Walter, M , Schreiner, M W, Whalley, H, Winter, N, Wittfeld, K, Yang, T T, Yüksel, D, Zaremba, D, Thompson, P M , Veltman, D J, Schmaal, L & Francks, C 2019, ' No Alterations of Brain Structural Asymmetry in Major Depressive Disorder: An ENIGMA Consortium Analysis ', American Journal of Psychiatry, pp. appi.ajp.2019.1 . https://doi.org/10.1176/appi.ajp.2019.18101144
The American journal of psychiatry 176(12), 1039-1049 (2019). doi:10.1176/appi.ajp.2019.18101144
Academic Journal
Carcao M; Division of Haematology/Oncology, Department of Paediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address: manuel.carcao@sickkids.ca.; Königs C; Department of Pediatrics and Adolescent Medicine, Clinical and Molecular Haemostasis, Goethe University, Frankfurt, Germany.; Andersson NG; Department of Pediatrics, Center for Thrombosis and Hemostasis, Skåne University Hospital, Malmö, Sweden; Department of Clinical Sciences and Pediatrics, Lund University, Lund, Sweden.; de Kovel M; PedNet Haemophilia Research Foundation, Baarn, The Netherlands.; de Boer-Verdonk E; PedNet Haemophilia Research Foundation, Baarn, The Netherlands.; Motwani J; Department of Haematology, Birmingham Children's Hospital, Birmingham, United Kingdom.; Blatny J; Department of Paediatric Haematology and Biochemistry, Children's University Hospital, Brno, Czech Republic.; Olivieri M; Pediatric Thrombosis and Hemostasis Unit, Pediatric Hemophilia Center, Dr von Hauner Children's Hospital, Ludwig Maximillian University (LMU), Munich, Munich, Germany.; van den Berg M; PedNet Haemophilia Research Foundation, Baarn, The Netherlands.; Fischer K; PedNet Haemophilia Research Foundation, Baarn, The Netherlands; Center for Benign Haematology, Thrombosis and Haemostasis, Van Creveldkliniek, University Medical Center Utrecht, University Utrecht, Utrecht, The Netherlands.
Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE
Academic Journal
Galizia, Elizabeth C; Myers, Candace T; Leu, Costin; de Kovel, Carolien G F; Afrikanova, Tatiana; Cordero-Maldonado, Maria Lorena; Martins, Teresa G; Jacmin, Maxime; Drury, Suzanne; Krishna Chinthapalli, V; Muhle, Hiltrud; Pendziwiat, Manuela; Sander, Thomas; Ruppert, Ann-Kathrin; Møller, Rikke S; Thiele, Holger; Krause, Roland; Schubert, Julian; Lehesjoki, Anna-Elina; Nürnberg, Peter; Lerche, Holger; Palotie, Aarno; Coppola, Antonietta; Striano, Salvatore; Gaudio, Luigi Del; Boustred, Christopher; Schneider, Amy L; Lench, Nicholas; Jocic-Jakubi, Bosanka; Covanis, Athanasios; Capovilla, Giuseppe; Veggiotti, Pierangelo; Piccioli, Marta; Parisi, Pasquale; Cantonetti, Laura; Sadleir, Lynette G; Mullen, Saul A; Berkovic, Samuel F; Stephani, Ulrich; Helbig, Ingo; Crawford, Alexander D; Esguerra; Zara Federico; Striano Pasquale; Camila V; Kasteleijn-Nolst Trenité, Dorothee G A; Koeleman, Bobby P C; Mefford, Heather C; Scheffer, Ingrid E; Sisodiya, Sanjay M
Brain
Galizia, E C, Myers, C T, Leu, C,de Kovel , C G F, Afrikanova, T, Cordero-Maldonado, M L, Martins, T G, Jacmin, M , Drury, S, Krishna Chinthapalli, V, Muhle, H, Pendziwiat, M , Sander, T, Ruppert, A-K, Møller, R S, Thiele, H, Krause, R, Schubert, J, Lehesjoki, A-E, Nürnberg, P, Lerche, H, Palotie, A, Coppola, A, Striano, S, Gaudio, L D, Boustred, C, Schneider, A L, Lench, N, Jocic-Jakubi, B, Covanis, A, Capovilla, G, Veggiotti, P, Piccioli, M , Parisi, P, Cantonetti, L, Sadleir, L G, Mullen, S A, Berkovic, S F, Stephani, U, Helbig, I, Crawford, A D, Esguerra, C V, Kasteleijn-Nolst Trenité, D G A, Koeleman, B P C, Mefford, H C, Scheffer, I E, Sisodiya, S M & EuroEPINOMICS CoGIE Consortium 2015, ' CHD2 variants are a risk factor for photosensitivity in epilepsy ', Brain, vol. 138, no. 5, pp. 1198-1208 . https://doi.org/10.1093/brain/awv052
Galizia, E C, Myers, C T, Leu, C,
Editorial & Opinion
Ranta S; Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden. Electronic address: susanna.ranta@ki.se.; Zapotocka E; Department of Pediatric Hematology and Oncology, University Hospital Motol and Second Faculty of Medicine, Charles University, Prague, Czech Republic.; Andersson NG; Center for Thrombosis and Haemostasis, Skåne University Hospital, Malmö, Sweden; Department of Clinical Sciences and Paediatrics, Lund University, Lund, Sweden.; Fischer K; Center for Benign Haematology, Thrombosis and Haemostasis Van Creveldkliniek, University Medical Center Utrecht, Utrecht, the Netherlands; PedNet Haemophilia Research Foundation, Baarn, the Netherlands.; Kenet G; National Hemophilia Center, Sheba, Tel Hashomer & the Amalia Biron Thrombosis Research Institute, Tel Aviv University, Israel.; de Kovel M; PedNet Haemophilia Research Foundation, Baarn, the Netherlands.; Königs C; Goethe University, University Hospital Frankfurt, Department of Paediatrics and Adolescent Medicine, Frankfurt, Germany.; Labarque V; Department of Pediatric Hemato-Oncology, University Hospitals Leuven, Leuven, Belgium; Centre of Molecular and Vascular Biology, KU Leuven, Leuven, Belgium.; Male C; Department of Paediatrics, Medical University of Vienna, Vienna, Austria.; Olivieri M; Pediatric Thrombosis and Hemostasis Unit, Pediatric Hemophilia Center, Dr. von Hauner Children's Hospital, LMU Munich, Munich, Germany.; Motwani J; Department of Haematology, Centre Director for Haemophilia Comprehensive Care Centre, Birmingham Children's Hospital, UK.
Publisher: Pergamon Press Country of Publication: United States NLM ID: 0326377 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-2472 (Electronic) Linking ISSN: 00493848 NLM ISO Abbreviation: Thromb Res Subsets: MEDLINE; In Process
Academic Journal
de Kovel, Carolien G F; Brilstra, Eva H; van Kempen, Marjan J A; Van't Slot, Ruben; Nijman, Isaac J; Afawi, Zaid; De Jonghe, Peter; Djémié, Tania; Guerrini, Renzo; Hardies, Katia; Helbig, Ingo; Hendrickx, Rik; Kanaan, Moine; Kramer, Uri; Lehesjoki, Anna-Elina E; Lemke, Johannes R; Marini, Carla; Mei, Davide; Møller, Rikke S; Pendziwiat, Manuela; Stamberger, Hannah; Suls, Arvid; Weckhuysen, S; Balling, R; Barisic, N; Baulac, S; Caglayan, HS; Craiu, DC; Depienne, C; Gormley, P; Hjalgrim, H; Hoffman-Zacharska, D; Jähn, J; Klein, KM; Komarek, V; LeGuern, E; Lerche, H; May, P; Muhle, H; Pal, D; Palotie, A; Rosenow, F; Selmer, K; Serratosa, JM; Sisodiya, SM; Stephani, U; Sterbova, K; Striano, P; Talvik, T; van Haelst, M; Verbeek, N; von Spiczak, S; Weber, YG; Koeleman, BPC.
Mol Genet Genomic Med
EuroEPINOMICS RES Consortium 2016, 'Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580. https://doi.org/10.1002/mgg3.235
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine
de Kovel , C G F, Brilstra, E H, van Kempen, M J A, Van't Slot, R, Nijman, I J, Afawi, Z, De Jonghe, P, Djémié, T, Guerrini, R, Hardies, K, Helbig, I, Hendrickx, R, Kanaan, M , Kramer, U, Lehesjoki, A-E E, Lemke, J R, Marini, C, Mei, D, Møller, R S, Pendziwiat, M , Stamberger, H, Suls, A, Weckhuysen, S, Koeleman, B P C & EuroEPINOMICS RES Consortium 2016, ' Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients ', Molecular Genetics & Genomic Medicine, vol. 4, no. 5, pp. 568-580 . https://doi.org/10.1002/mgg3.235
EuroEPINOMICS RES Consortium 2016, 'Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients', Molecular Genetics and Genomic Medicine, vol. 4, no. 5, pp. 568-580. https://doi.org/10.1002/mgg3.235
Molecular Genetics & Genomic Medicine
Molecular genetics & genomic medicine
Academic Journal
de Lange, IM; Helbig, KL; Weckhuysen, S; Møller, RS; Velinov, M; Dolzhanskaya, N; Marsh, E; Helbig, I; Devinsky, O; Tang, S; Mefford, HC; Myers, CT; van Paesschen, W; Striano, P; van Gassen, K; van Kempen, M; de Kovel, CG; Piard, J; Minassian, BA; Nezarati, MM; Pessoa, A; Jacquette, A; Maher, B; Balestrini, S; Sisodiya, S; Warde, MT; De St Martin, A; Chelly, J; EuroEPINOMICS-RES MAE Working Group, .; van 't Slot, R; Van Maldergem, L; Brilstra, EH; Koeleman, BP
Academic Journal
Schubert, J.; Siekierska, A.; Langlois, M.; May, P.; Huneau, C.; Becker, F.; Muhle, H.; Suls, A.; Lemke, J. R.; de Kovel, C. G. F.; Thiele, H.; Konrad, K.; Kawalia, A.; Toliat, M. R.; Sander, T.; Ruschendorf, F.; Caliebe, A.; Nagel, I.; Kohl, B.; Kecskes, A.; Jacmin, M.; Hardies, K.; Weckhuysen, S.; Riesch, E.; Dorn, T.; Brilstra, E. H.; Baulac, S.; Moller, R. S.; Hjalgrim, H.; Koeleman, B. P. C.; Jurkat-Rott, K.; Lehman-Horn, F.; Roach, J. C.; Glusman, G.; Hood, L.; Galas, D. J.; Martin, B.; de Witte, P. A. M.; Biskup, S.; De Jonghe, P.; Helbig, I.; Balling, R.; Nurnberg, P.; Crawford, A. D.; Esguerra, C. V.; Weber, Y. G.; Lerche, H.; Euro, Epinomics R. E. S. Consortium
Schubert, J, Siekierska, A, Langlois, M , May, P, Huneau, C, Becker, F, Muhle, H, Suls, A, Lemke, J R, de Kovel , C G F, Thiele, H, Konrad, K, Kawalia, A, Toliat, M R, Sander, T, Ruschendorf, F, Caliebe, A, Nagel, I, Kohl, B, Kecskes, A, Jacmin, M , Hardies, K, Weckhuysen, S, Riesch, E, Dorn, T, Brilstra, E H, Baulac, S, Moller, R S, Hjalgrim, H, Koeleman, B P C, Jurkat-Rott, K, Lehman-Horn, F, Roach, J C, Glusman, G, Hood, L, Galas, D J, Martin, B, de Witte, P A M , Biskup, S, De Jonghe, P, Helbig, I, Balling, R, Nurnberg, P, Crawford, A D, Esguerra, C V, Weber, Y G, Lerche, H & Euro, E R E S C 2014, ' Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes ', Nature Genetics, vol. 46, no. 12, pp. 1327-1332 . https://doi.org/10.1038/ng.3130
Nature Genetics
Nature Genetics
Academic Journal
Kasteleijn-Nolst Trenité, Dorothée G. A.; Volkers, Linda; Strengman, Eric; Schippers, Herman M.; Perquin, Willem; de Haan, Gerrit-Jan; Gkountidi, Anastasia O.; van't Slot, Ruben; van de Graaf, Stan F.; de Graaf, Stan F.; Jocic-Jakubi, Bosanka; Capovilla, Giuseppe; Covanis, Athanasios; Parisi, Pasquale; Veggiotti, Pierangelo; Brinciotti, Mario; Incorpora, Gemma; Piccioli, Marta; Cantonetti, Laura; Berkovic, Samuel F.; Scheffer, Ingrid E.; Brilstra, Eva H.; Sonsma, Anja C. M.; Bader, Adri J.; de Kovel, Carolien G. F.; Koeleman, Bobby P. C.
Seizure-European Journal of Epilepsy
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[검색어] De Kovel, M.
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