학술논문
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'학술논문'
에서 검색결과 59건 | 목록
1~20
Academic Journal
Helbig, Katherine; Lauerer, Robert; Bahr, Jacqueline; Souza, Ivana; Myers, Candace; Uysal, Betül; Schwarz, Niklas; Gandini, Maria; Huang, Sun; Keren, Boris; Mignot, Cyril; Afenjar, Alexandra; Billette de Villemeur, Thierry; Héron, Delphine; Nava, Caroline; Valence, Stéphanie; Buratti, Julien; Fagerberg, Christina; Soerensen, Kristina; Kibaek, Maria; Kamsteeg, Erik-Jan; Koolen, David; Gunning, Boudewijn; Schelhaas, H Jurgen; Kruer, Michael; Fox, Jordana; Bakhtiari, Somayeh; Jarrar, Randa; Padilla-Lopez, Sergio; Lindstrom, Kristin; Jin, Sheng Chih; Zeng, Xue; Bilguvar, Kaya; Papavasileiou, Antigone; Xing, Qinghe; Zhu, Changlian; Boysen, Katja; Vairo, Filippo; Lanpher, Brendan; Klee, Eric; Tillema, Jan-Mendelt; Payne, Eric; Cousin, Margot; Kruisselbrink, Teresa; Wick, Myra; Baker, Joshua; Haan, Eric; Smith, Nicholas; Sadeghpour, Azita; Davis, Erica; Katsanis, Nicholas; Corbett, Mark; Maclennan, Alastair; Gecz, Jozef; Biskup, Saskia; Goldmann, Eva; Rodan, Lance; Kichula, Elizabeth; Segal, Eric; Jackson, Kelly; Asamoah, Alexander; Dimmock, David; Mccarrier, Julie; Botto, Lorenzo; Filloux, Francis; Tvrdik, Tatiana; Cascino, Gregory; Klingerman, Sherry; Neumann, Catherine; Wang, Raymond; Jacobsen, Jessie; Nolan, Melinda; Snell, Russell; Lehnert, Klaus; Sadleir, Lynette; Anderlid, Britt-Marie; Kvarnung, Malin; Guerrini, Renzo; Friez, Michael; Lyons, Michael; Leonhard, Jennifer; Kringlen, Gabriel; Casas, Kari; El Achkar, Christelle; Smith, Lacey; Rotenberg, Alexander; Poduri, Annapurna; Sanchis-Juan, Alba; Carss, Keren; Rankin, Julia; Zeman, Adam; Raymond, F Lucy; Blyth, Moira; Kerr, Bronwyn; Ruiz, Karla; Urquhart, Jill; Hughes, Imelda; Banka, Siddharth; Hedrich, Ulrike; Scheffer, Ingrid; Helbig, Ingo; Zamponi, Gerald; Lerche, Holger; Mefford, Heather; Allori, Alexander; Angrist, Misha; Ashley, Patricia; Bidegain, Margarita; Boyd, Brita; Chambers, Eileen; Cope, Heidi; Cotten, C. Michael; Curington, Theresa; Ellestad, Sarah; Fisher, Kimberley; French, Amanda; Gallentine, William; Goldberg, Ronald; Hill, Kevin; Kansagra, Sujay; Katsanis, Sara; Kurtzberg, Joanne; Marcus, Jeffrey; Mcdonald, Marie; Mikati, Mohammed; Miller, Stephen; Murtha, Amy; Perilla, Yezmin; Pizoli, Carolyn; Purves, Todd; Ross, Sherry; Smith, Edward; Wiener, John
American Journal of Human Genetics, 103, 5, pp. 666-678
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
Deciphering Developmental Disorders Study, Task Force for Neonatal Genomics, Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, Billette, D V T, Héron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, C R, Soerensen, K P, Kibaek, M, Kamsteeg, E-J, Koolen, D A, Gunning, B, Schelhaas, H J, Kruer, M C, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, S C, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, Q, Zhu, C, Boysen, K, Vairo, F, Lanpher, B C, Klee, E W, Tillema, J-M, Payne, E T, Cousin, M A, Kruisselbrink, T M, Wick, M J, Baker, J, Haan, E, Kerr, B, Hughes, I & Banka, S 2019, 'Correction : De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 104, no. 3, pp. P562. https://doi.org/10.1016/j.ajhg.2019.02.015
Deciphering Developmental Disorders Study 2018, 'De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678. https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, vol 103, iss 5
Deciphering Developmental Disorders Study 2018, ' De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias ', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678 . https://doi.org/10.1016/j.ajhg.2018.09.006
Deciphering Developmental Disorders Study, Task Force for Neonatal Genomics, Helbig, KL, Lauerer, RJ, Bahr, JC, Souza, IA, Myers, CT, Uysal, B, Schwarz, N, Gandini, MA, Huang, S, Keren, B, Mignot, C, Afenjar, A, Billette, D V T, Héron, D, Nava, C, Valence, S, Buratti, J, Fagerberg, C R, Soerensen, K P, Kibaek, M, Kamsteeg, E-J, Koolen, D A, Gunning, B, Schelhaas, H J, Kruer, M C, Fox, J, Bakhtiari, S, Jarrar, R, Padilla-Lopez, S, Lindstrom, K, Jin, S C, Zeng, X, Bilguvar, K, Papavasileiou, A, Xing, Q, Zhu, C, Boysen, K, Vairo, F, Lanpher, B C, Klee, E W, Tillema, J-M, Payne, E T, Cousin, M A, Kruisselbrink, T M, Wick, M J, Baker, J, Haan, E, Kerr, B, Hughes, I & Banka, S 2019, 'Correction : De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 104, no. 3, pp. P562. https://doi.org/10.1016/j.ajhg.2019.02.015
Deciphering Developmental Disorders Study 2018, 'De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias', American Journal of Human Genetics, vol. 103, no. 5, pp. 666-678. https://doi.org/10.1016/j.ajhg.2018.09.006
American Journal of Human Genetics, vol 103, iss 5
Academic Journal
Verstraete, Esther; Veldink, Jan H; Huisman, Mark H B; Draak, Tim; Uijtendaal, Esther V; van der Kooi, Anneke J; Schelhaas, H Jurgen; de Visser, Marianne; van der Tweel, Ingeborg; van den Berg, Leonard H
Journal of Neurology, Neurosurgery & Psychiatry. May 01, 2012 83(5):557-564
Academic Journal
Verstraete, Esther; Veldink, Jan H; Hendrikse, Jeroen; Schelhaas, H Jurgen; van den Heuvel, Martijn P; van den Berg, Leonard H
Journal of Neurology, Neurosurgery & Psychiatry. Apr 01, 2012 83(4):383-388
Academic Journal
Huisman, Mark H B; de Jong, Sonja W; van Doormaal, Perry T C; Weinreich, Stephanie S; Schelhaas, H Jurgen; van der Kooi, Anneke J; de Visser, Marianne; Veldink, Jan H; van den Berg, Leonard H
Journal of Neurology, Neurosurgery & Psychiatry. Oct 01, 2011 82(10):1165-1170
Academic Journal
Weterman, Marian AJ; Sorrentino, Vincenzo; Kasher, Paul R; Jakobs, Marja E; van Engelen, Baziel GM; Fluiter, Kees; de Wissel, Marit B; Sizarov, Aleksander; Nuernberg, Gudrun; Nuernberg, Peter; Zelcer, Noam; Schelhaas, H Jurgen; Baas, Frank
Human Molecular Genetics, 21, 2, pp. 358-70
Weterman, M A J, Sorrentino, V, Kasher, P R, Jakobs, M E, van Engelen, B G M, Fluiter, K, de Wissel, M B, Sizarov, A, Nürnberg, G, Nürnberg, P, Zelcer, N, Schelhaas, H J & Baas, F 2012, 'A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.', Human Molecular Genetics, vol. 21, no. 2. https://doi.org/10.1093/hmg/ddr471
Weterman, M A J, Sorrentino, V, Kasher, P R, Jakobs, M E, van Engelen, B G M, Fluiter, K, de Wissel, M B, Sizarov, A, Nürnberg, G, Nürnberg, P, Zelcer, N, Schelhaas, H J & Baas, F 2012, 'A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.', Human Molecular Genetics, vol. 21, no. 2. https://doi.org/10.1093/hmg/ddr471
Conference
Hammer, Trine Bjørg; de Lange, Iris M; Ben-Zeev, B.; Bertelsen, Birgitte Møllegaard; Bouman, Arjan; Brilstra, E. H.; de Geus, Eco J C; Edery, Patrick; Granild-Jensen, Jakob Bie; Heimer, G.; Kharytonov, V.; Koolen, David A; Korff, Christian M; Lesca, Gaetan; Ranza, Emmanuelle; Schelhaas, H Jurgen; Shah, K; Sisodiya, Sanjay M; Stuurman, Kyra E.; Verbeek, Nienke E; Verhoeven, Judith S.; Zarate, Y.; Koeleman, B. P. C.; Møller, Rikke Steensbjerre
Hammer, T B, Lange, I D, Ben-Zeev, B, Bertelsen, B, Bouman, A, Brilstra, E H, de Geus, C, Edery, P, Granild-Jensen, J B, Heimer, G, Kharytonov, V, Koolen, D, Korff, C M, Lesca, G, Ranza, E, Schelhaas, H J, Shah, K, Sisodiya, S, Stuurman, K, Verbeek, N, Verhoeven, J S, Zarate, Y, Koeleman, B P C & Moller, R S 2018, ' KIAA2022-Further Elucidating the Phenotype ', Epilepsia, vol. 59, no. Suppl. 3, pp. S218-S219 .
Academic Journal
Braakman HM; Department of Neurology Academic Center for Epileptology Kempenhaeghe and Maastricht UMC+Heeze the Netherlands.; Verhoeven JS; Department of Neurology Academic Center for Epileptology Kempenhaeghe and Maastricht UMC+Heeze the Netherlands.; Erasmus CE; Department of Neurology Radboud University Medical Center Nijmegen the Netherlands.; Haaxma CA; Department of Neurology Radboud University Medical Center Nijmegen the Netherlands.; Willemsen MH; Department of Human Genetics Radboud University Medical Center Donders Institute for Brain, Cognition and Behavior Nijmegen the Netherlands.; Department of Human Genetics Maastricht University Medical Center+Maastricht the Netherlands.; Schelhaas HJ; Department of Neurology Academic Center for Epileptology Kempenhaeghe and Maastricht UMC+Heeze the Netherlands.
Publisher: John Wiley & Sons, Inc Country of Publication: United States NLM ID: 101692036 Publication Model: eCollection Cited Medium: Print ISSN: 2470-9239 (Print) Linking ISSN: 24709239 NLM ISO Abbreviation: Epilepsia Open Subsets: PubMed not MEDLINE
Academic Journal
Huisman MH; Department of Neurology, Rudolf Magnus Brain Centre, University Medical Centre Utrecht, Utrecht, the Netherlands.; Seelen M; Department of Neurology, Rudolf Magnus Brain Centre, University Medical Centre Utrecht, Utrecht, the Netherlands.; van Doormaal PT; Department of Neurology, Rudolf Magnus Brain Centre, University Medical Centre Utrecht, Utrecht, the Netherlands.; de Jong SW; Department of Neurology, Rudolf Magnus Brain Centre, University Medical Centre Utrecht, Utrecht, the Netherlands.; de Vries JH; Division of Human Nutrition, Wageningen University, Wageningen, the Netherlands.; van der Kooi AJ; Department of Neurology, Amsterdam Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.; de Visser M; Department of Neurology, Amsterdam Medical Centre, University of Amsterdam, Amsterdam, the Netherlands.; Schelhaas HJ; Department of Neurology, Donders Institute for Brain, Cognition, and Behaviour, Centre for Neuroscience, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands.; van den Berg LH; Department of Neurology, Rudolf Magnus Brain Centre, University Medical Centre Utrecht, Utrecht, the Netherlands.; Veldink JH; Department of Neurology, Rudolf Magnus Brain Centre, University Medical Centre Utrecht, Utrecht, the Netherlands.
Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE
Editorial & Opinion
van der Linden PF; Department of Residential Care, Kempenhaeghe, Heeze, The Netherlands. lindenp@kempenhaeghe.nl.; Tan IY; Department of Residential Care, Kempenhaeghe, Heeze, The Netherlands.; van Erp MG; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.; van Blarikom W; Department of Residential Care, Kempenhaeghe, Heeze, The Netherlands.; Schelhaas HJ; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.; Majoie MH; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Heeze, The Netherlands.; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe/Maastricht University Medical Center, Maastricht, The Netherlands.
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Editorial & Opinion
van Mierlo P; Department of Neurology, Academic Center for Epileptology, Kempenhaeghe, Heeze, The Netherlands. mierlop@kempenhaeghe.nl.; Snoeijen-Schouwenaars FM; Veendrick MJ; Tan IY; Willemsen MH; Schelhaas HJ; Kleine BU
Publisher: Blackwell Science Country of Publication: United States NLM ID: 2983306R Publication Model: Print Cited Medium: Internet ISSN: 1528-1167 (Electronic) Linking ISSN: 00139580 NLM ISO Abbreviation: Epilepsia Subsets: MEDLINE
Academic Journal
van Dartel D; Department of Neurology and Neurosurgery, Medisch Spectrum Twente, Enschede, the Netherlands.; Biomedical Signals and Systems group, University of Twente, Enschede, the Netherlands.; Schelhaas HJ; Academic Centre for Epileptology, Kempenhaeghe/MUMC+, Heeze, the Netherlands.; Colon AJ; Academic Centre for Epileptology, Kempenhaeghe/MUMC+, Heeze, the Netherlands.; Kho KH; Department of Neurology and Neurosurgery, Medisch Spectrum Twente, Enschede, the Netherlands.; de Vos CC; Department of Neurology and Neurosurgery, Medisch Spectrum Twente, Enschede, the Netherlands.; Montreal Neurological Institute, McGill University, Canada.; Centre for Pain Medicine, Erasmus MC, University Medical Centre, Rotterdam, the Netherlands.
Publisher: IOP Pub Country of Publication: England NLM ID: 101463871 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-7163 (Electronic) Linking ISSN: 17527155 NLM ISO Abbreviation: J Breath Res Subsets: MEDLINE
Academic Journal
Piepers S; Veldink JH; de Jong SW; van der Tweel I; van der Pol WL; Uijtendaal EV; Schelhaas HJ; Scheffer H; de Visser M; de Jong JM; Wokke JH; Groeneveld GJ; van den Berg LH; Piepers, Sanne; Veldink, Jan H; de Jong, Sonja W; van der Tweel, Ingeborg; van der Pol, W-Ludo; Uijtendaal, Esther V; Schelhaas, H Jurgen; et al
Academic Journal
Munneke MA; Radboud University Nijmegen Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Department of Neurology/Clinical Neurophysiology, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.; Rongen JJ; Overeem S; Schelhaas HJ; Zwarts MJ; Stegeman DF
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE
Academic Journal
de Jong SW; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, The Netherlands.; Huisman MH; Hennekam EA; Sutedja NA; van der Kooi AJ; de Visser M; Schelhaas HJ; Fischer K; Veldink JH; van den Berg LH
Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE
Academic Journal
van Rheenen, Wouter; Diekstra, Frank P; van Doormaal, Perry TC; Seelen, Meinie; Kenna, Kevin; McLaughlin, Russell; Shatunov, Aleksey; Czell, David; van Es, Michael A; van Vught, Paul WJ; van Damme, Philip; Smith, Bradley N; Waibel, Stefan; Schelhaas, H Jurgen; van der Kooi, Anneke J; de Visser, Marianne; Weber, Markus; Robberecht, Wim; Hardiman, Orla; Shawi, Pamela J; Shaw, Christopher E; Morrison, Karen E; Al-Chalabi, Ammar; Andersen, Peter M; Ludolph, Albert C; Veldink, Jan H; van den Berg, Leonard H
Neurobiology of Aging. 34(5)
Editorial & Opinion
Raaphorst J; Beeldman E; Jaeger B; Schmand B; van den Berg LH; Weikamp JG; Schelhaas HJ; de Visser M; de Haan RJ
Publisher: Taylor & Francis Country of Publication: England NLM ID: 101587185 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2167-9223 (Electronic) Linking ISSN: 21678421 NLM ISO Abbreviation: Amyotroph Lateral Scler Frontotemporal Degener Subsets: MEDLINE
Academic Journal
Seelaar H; Schelhaas J; Azmani A; Kusters B; Rosso S; Majoor-Krakauer D; de Rijk MC; Rizzu P; Brummelhuis M; van Doorn PA; Kamphorst W; Willemsen R; van Swieten JC; Seelaar, Harro; Schelhaas, H Jurgen; Azmani, Asma; Küsters, Benno; Rosso, Sonia; Majoor-Krakauer, Danielle; de Rijk, Maarten C; et al
Academic Journal
Verstraete E; Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Utrecht, The Netherlands.; Kuiperij HB; van Blitterswijk MM; Veldink JH; Schelhaas HJ; van den Berg LH; Verbeek MM
Publisher: Informa Healthcare Country of Publication: England NLM ID: 101283386 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-180X (Electronic) Linking ISSN: 1471180X NLM ISO Abbreviation: Amyotroph Lateral Scler Subsets: MEDLINE
Report
Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 7803146 Publication Model: Print Cited Medium: Internet ISSN: 1097-4598 (Electronic) Linking ISSN: 0148639X NLM ISO Abbreviation: Muscle Nerve Subsets: MEDLINE
Report
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE
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[AR] Schelhaas, H Jurgen
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