학술논문
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'학술논문'
에서 검색결과 563건 | 목록
1~20
Academic Journal
van Oirsouw, Amber S. E.; Hadders, Michael A.; Koetsier, Martijn; Peters, Edith D. J.; Batzir, Nurit Assia; Barakat, Tahsin Stefan; Baralle, Diana; Beil, Adelyn; Bonnet-Dupeyron, Marie-Noëlle; Boone, Philip M.; Bouman, Arjan; Carere, Deanna Alexis; Cogne, Benjamin; Dunnington, Leslie; Farach, Laura S.; Genetti, Casie A.; Isidor, Bertrand; Januel, Louis; Joshi, Aakash; Lahiri, Nayana; Lee, Kristen N.; Maya, Idit; McEntagart, Meriel; Northrup, Hope; Pujalte, Mathilde; Richardson, Kate; Walker, Susan; Koeleman, Bobby P. C.; Alders, Mariëlle; van Jaarsveld, Richard H.; Oegema, Renske
Hum Mol Genet
Academic Journal
Leu, Costin; Avbersek, Andreja; Stevelink, Remi; Custodio, Helena Martins; Chen, Siwei; Speed, Doug; Bennett, Caitlin A.; Jonsson, Lina, 1982; Unnsteinsdottir, Unnur; Jorgensen, Andrea L.; Cavalleri, Gianpiero L.; Delanty, Norman; Craig, John J.; Depondt, Chantal; Johnson, Michael R.; Koeleman, Bobby P. C.; Hassanin, Emadeldin; Omidvar, Maryam Erfanian; Krause, Roland; Lerche, Holger; Marson, Anthony G.; O'Brien, Terence J.; Sander, Josemir W.; Sills, Graeme J.; Striano, Pasquale; Zara, Federico; Stefansson, Hreinn; Stefansson, Kari; May, Patrick; Neale, Benjamin M.; Lal, Dennis; Berkovic, Samuel F.; Sisodiyab, Sanjay M.
EBIOMEDICINE. 115
Academic Journal
Amein K. Al-Ali; Abdullah M. Al-Rubaish; Rudaynah A. Alali; Mohammed S. Almansori; Mohammed A. Al-Jumaan; Abdullah M. Alshehri; Mohammed S. Al-Madan; ChittiBabu Vatte; Tess Cherlin; Sylvia Young; Shefali S. Verma; Grant Morahan; Bobby P. C. Koeleman; Brendan J. Keating
Scientific Reports, Vol 13, Iss 1, Pp 1-10 (2023)
Academic Journal
Stevelink, Remi; Piet, M. Martijn; Bos, Yorgos; van 't Slot, Ruben; Braun, Kees P. J.; Koeleman, Bobby P. C.
Academic Journal
Stamberger, Hannah; Hammer, Trine B; Gardella, Elena; Vlaskamp, Danique R M; Bertelsen, Birgitte; Mandelstam, Simone; de Lange, Iris; Zhang, Jing; Myers, Candace T; Fenger, Christina; Afawi, Zaid; Almanza Fuerte, Edith P; Andrade, Danielle M; Balcik, Yunus; Ben Zeev, Bruria; Bennett, Mark F; Berkovic, Samuel F; Isidor, Bertrand; Bouman, Arjan; Brilstra, Eva; Busk, Øyvind L; Cairns, Anita; Caumes, Roseline; Chatron, Nicolas; Dale, Russell C; de Geus, Christa; Edery, Patrick; Gill, Deepak; Granild-Jensen, Jacob Bie; Gunderson, Lauren; Gunning, Boudewijn; Heimer, Gali; Helle, Johan R; Hildebrand, Michael S; Hollingsworth, Georgie; Kharytonov, Volodymyr; Klee, Eric W; Koeleman, Bobby P C; Koolen, David A; Korff, Christian; Küry, Sébastien; Lesca, Gaetan; Lev, Dorit; Leventer, Richard J; Mackay, Mark T; Macke, Erica L; McEntagart, Meriel; Mohammad, Shekeeb S; Monin, Pauline; Montomoli, Martino; Morava, Eva; Moutton, Sebastien; Muir, Alison M; Parrini, Elena; Procopis, Peter; Ranza, Emmanuelle Nathalie; Reed, Laura; Reif, Philipp S; Rosenow, Felix; Rossi, Massimiliano; Sadleir, Lynette G; Sadoway, Tara; Schelhaas, Helenius J; Schneider, Amy L; Shah, Krati; Shalev, Ruth; Sisodiya, Sanjay M; Smol, Thomas; Stumpel, Connie T R M; Stuurman, Kyra; Symonds, Joseph D; Mau-Them, Frederic Tran; Verbeek, Nienke; Verhoeven, Judith S; Wallace, Geoffrey; Yosovich, Keren; Zarate, Yuri A; Zerem, Ayelet; Zuberi, Sameer M; Guerrini, Renzo; Mefford, Heather C; Patel, Chirag; Zhang, Yue-Hua; Møller, Rikke S; Scheffer, Ingrid E
Genetics in Medicine, 23, 2, pp. 363-373
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers,C T, Fenger, C , Afawi, Z, Almanza Fuerte, E P , Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C , de Geus, C , Edery, P , Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman , B P C , Koolen, D A, Korff, C , Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P , Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P , Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C , Patel, C , Zhang, Y H, Møller, R S & Scheffer, I E 2021, ' NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns ', Genetics in Medicine, vol. 23, no. 2, pp. 363-373 . https://doi.org/10.1038/s41436-020-00988-9
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers,C T, Fenger, C , Afawi, Z, Almanza Fuerte, E P , Andrade, D M, Balcik, Y, Ben Zeev, B, Bennett, M F, Berkovic, S F, Isidor, B, Bouman, A, Brilstra, E, Busk, Ø L, Cairns, A, Caumes, R, Chatron, N, Dale, R C , de Geus, C , Edery, P , Gill, D, Granild-Jensen, J B, Gunderson, L, Gunning, B, Heimer, G, Helle, J R, Hildebrand, M S, Hollingsworth, G, Kharytonov, V, Klee, E W, Koeleman , B P C , Koolen, D A, Korff, C , Küry, S, Lesca, G, Lev, D, Leventer, R J, Mackay, M T, Macke, E L, McEntagart, M, Mohammad, S S, Monin, P , Montomoli, M, Morava, E, Moutton, S, Muir, A M, Parrini, E, Procopis, P , Ranza, E, Reed, L, Reif, P S, Rosenow, F, Rossi, M, Sadleir, L G, Sadoway, T, Schelhaas, H J, Schneider, A L, Shah, K, Shalev, R, Sisodiya, S M, Smol, T, Stumpel, C T R M, Stuurman, K, Symonds, J D, Mau-Them, F T, Verbeek, N, Verhoeven, J S, Wallace, G, Yosovich, K, Zarate, Y A, Zerem, A, Zuberi, S M, Guerrini, R, Mefford, H C , Patel, C , Zhang, Y-H, Møller, R S & Scheffer, I E 2021, 'NEXMIF encephalopathy : an X-linked disorder with male and female phenotypic patterns', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 23, no. 2, pp. 363-373. https://doi.org/10.1038/s41436-020-00988-9
Genetics in Medicine, Vol. 23, No 2 (2021) pp. 363-373
Genetics in medicine
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers,
Stamberger, H, Hammer, T B, Gardella, E, Vlaskamp, D R M, Bertelsen, B, Mandelstam, S, de Lange, I, Zhang, J, Myers,
Academic Journal
International League Against Epilepsy Consortium on Complex Epilepsies; Koeleman, Bobby P. C.; Berkovic, Samuel F.; Cavalleri, Gianpiero L.
Nature genetics 55(9), 1471-1482 (2023). doi:10.1038/s41588-023-01485-w special issue: "Skin mutant clones"
Academic Journal
Stefan Wolking; Claudia Moreau; Mark McCormack; Roland Krause; Martin Krenn; EpiPGx Consortium; Samuel Berkovic; Gianpiero L. Cavalleri; Norman Delanty; Chantal Depondt; Michael R. Johnson; Bobby P. C. Koeleman; Wolfram S. Kunz; Holger Lerche; Anthony G. Marson; Terence J. O’Brien; Slave Petrovski; Josemir W. Sander; Graeme J. Sills; Pasquale Striano; Federico Zara; Fritz Zimprich; Sanjay M. Sisodiya; Simon L. Girard; Patrick Cossette
Annals of Clinical and Translational Neurology, Vol 8, Iss 7, Pp 1376-1387 (2021)
Academic Journal
Knevel, Rachel; de Rooy, Diederik P. C.; Saxne, Tore; Lindqvist, Elisabet; Leijsma, Martha K.; Daha, Nina A.; Koeleman, Bobby P. C.; Tsonaka, Roula; Houwing-Duistermaat, Jeanine J.; Schonkeren, Joris J. M.; Toes, Rene E. M.; Huizinga, Tom W. J.; Brouwer, Elisabeth; Wilson, Anthony G.; van der Helm-van Mil, Annette H. M.
Arthritis Research and Therapy. 16(3)
Academic Journal
Mahdi S. Abumadini; Kholoud S. Al Ghamdi; Abdullah H. Alqahtani; Dana K. Almedallah; Lauren Callans; Jumanah A. Jarad; Cyril Cyrus; Bobby P. C. Koeleman; Brendan J. Keating; Nathan Pankratz; Amein K. Al-Ali
Frontiers in Molecular Neuroscience, Vol 16 (2023)
Academic Journal
Nijboer, Tanja C. W.; Hessel, Ellen V. S.; van Haaften, Gijs W.; van Zandvoort, Martine J.; van der Spek, Peter J.; Troelstra, Christine; de Kovel, Carolien G. F.; Koeleman, Bobby P. C.; van der Zwaag, Bert; Brilstra, Eva H.; Burbach, J. Peter H.
PLoS ONE. September 6, 2023, Vol. 18 Issue 9, e0290013
Academic Journal
Tanja C W Nijboer; Ellen V S Hessel; Gijs W van Haaften; Martine J van Zandvoort; Peter J van der Spek; Christine Troelstra; Carolien G F de Kovel; Bobby P C Koeleman; Bert van der Zwaag; Eva H Brilstra; J Peter H Burbach
PLoS ONE, Vol 18, Iss 9, p e0290013 (2023)
Academic Journal
Gorlova, Olga; Martin, Jose-Ezequiel; Rueda, Blanca; Koeleman, Bobby P. C.; Ying, Jun; Teruel, Maria; Diaz-Gallo, Lina-Marcela; Broen, Jasper C.; Vonk, Madelon C.; Simeon, Carmen P.; Alizadeh, Behrooz Z.; Coenen, Marieke J. H.; Voskuyl, Alexandre E.; Schuerwegh, Annemie J.; van Riel, Piet L. C. M.; Vanthuyne, Marie; van't Slot, Ruben; Italiaander, Annet; Ophoff, Roel A.; Hunzelmann, Nicolas; Fonollosa, Vicente; Ortego-Centeno, Norberto; Gonzalez-Gay, Miguel A.; Garcia-Hernandez, Francisco J.; Gonzalez-Escribano, Maria F.; Airo, Paolo; van Laar, Jacob; Worthington, Jane; Hesselstrand, Roger; Smith, Vanessa; de Keyser, Filip; Houssiau, Fredric; Chee, Meng May; Madhok, Rajan; Shiels, Paul G.; Westhovens, Rene; Kreuter, Alexander; de Baere, Elfride; Witte, Torsten; Padyukov, Leonid; Nordin, Annika; Scorza, Raffaella; Lunardi, Claudio; Lie, Benedicte A.; Hoffmann-Vold, Anna-Maria; Palm, Oyvind; Garcia de la Pena, Paloma; Carreira, Patricia; Varga, John; Hinchcliff, Monique; Lee, Annette T.; Gourh, Pravitt; Amos, Christopher I.; Wigley, Frederick M.; Hummers, Laura K.; Hummers, J.; Nelson, J. Lee; Riemekasten, Gabriella; Herrick, Ariane; Beretta, Lorenzo; Fonseca, Carmen; Denton, Christopher P.; Gregersen, Peter K.; Agarwal, Sandeep; Assassi, Shervin; Tan, Filemon K.; Arnett, Frank C.; Radstake, Timothy R. D. J.; Mayes, Maureen D.; Martin, Javier
PLoS Genetics. 7(7)
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, EC , 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
Academic Journal
Bram P Prins; Ali Abbasi; Anson Wong; Ahmad Vaez; Ilja Nolte; Nora Franceschini; Philip E Stuart; Javier Guterriez Achury; Vanisha Mistry; Jonathan P Bradfield; Ana M Valdes; Jose Bras; Aleksey Shatunov; PAGE Consortium; International Stroke Genetics Consortium; Systemic Sclerosis consortium; Treat OA consortium; DIAGRAM Consortium; CARDIoGRAMplusC4D Consortium; ALS consortium; International Parkinson’s Disease Genomics Consortium; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; CKDGen consortium; GERAD1 Consortium; International Consortium for Blood Pressure; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Inflammation Working Group of the CHARGE Consortium; Chen Lu; Buhm Han; Soumya Raychaudhuri; Steve Bevan; Maureen D Mayes; Lam C Tsoi; Evangelos Evangelou; Rajan P Nair; Struan F A Grant; Constantin Polychronakos; Timothy R D Radstake; David A van Heel; Melanie L Dunstan; Nicholas W Wood; Ammar Al-Chalabi; Abbas Dehghan; Hakon Hakonarson; Hugh S Markus; James T Elder; Jo Knight; Dan E Arking; Timothy D Spector; Bobby P C Koeleman; Cornelia M van Duijn; Javier Martin; Andrew P Morris; Rinse K Weersma; Cisca Wijmenga; Patricia B Munroe; John R B Perry; Jennie G Pouget; Yalda Jamshidi; Harold Snieder; Behrooz Z Alizadeh
PLoS Medicine, Vol 13, Iss 6, p e1001976 (2016)
Academic Journal
Dennis Lal; Patrick May; Eduardo Perez-Palma; Kaitlin E. Samocha; Jack A. Kosmicki; Elise B. Robinson; Rikke S. Møller; Roland Krause; Peter Nürnberg; Sarah Weckhuysen; Peter De Jonghe; Renzo Guerrini; Lisa M. Niestroj; Juliana Du; Carla Marini; EuroEPINOMICS-RES Consortium; James S. Ware; Mitja Kurki; Padhraig Gormley; Sha Tang; Sitao Wu; Saskia Biskup; Annapurna Poduri; Bernd A. Neubauer; Bobby P. C. Koeleman; Katherine L. Helbig; Yvonne G. Weber; Ingo Helbig; Amit R. Majithia; Aarno Palotie; Mark J. Daly
Genome Medicine, Vol 12, Iss 1, Pp 1-12 (2020)
Academic Journal
Sanders, Maurits W. C. B.; Koeleman, Bobby P. C.; Brilstra, Eva H.; Jansen, Floor E.; Baldassari, Sara; Chipaux, Mathilde; Sim, Nam Suk; Ko, Ara; Kang, Hoon-Chul; Bluemcke, Ingmar; Lal, Dennis; Baulac, Stephanie; Lee, Jeong Ho; Aronica, Eleonora; Braun, Kees P. J.
Academic Journal
Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N.; Clark, Karl J.; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B.; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E.; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H.; Klee, Eric W.; Engleman, Kendra; Safina, Nicole P.; Slaugh, Rachel; Bryant, Emily M.; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N.; Schaefer, G. Bradley; Towner, Shelley; Brilstra, Eva H.; Koeleman, Bobby P. C.
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(8):1413-1417
Academic Journal
Maurits W. C. B. Sanders; Cynthia M. C. Lemmens; Floor E. Jansen; Eva H. Brilstra; Bobby P. C. Koeleman; Kees P. J. Braun; the Dutch Collaborative Epilepsy Surgery Program (LWEC)
Epilepsia Open, Vol 4, Iss 4, Pp 609-617 (2019)
Academic Journal
Elena López-Isac; Marialbert Acosta-Herrera; Martin Kerick; Shervin Assassi; Ansuman T. Satpathy; Jeffrey Granja; Maxwell R. Mumbach; Lorenzo Beretta; Carmen P. Simeón; Patricia Carreira; Norberto Ortego-Centeno; Ivan Castellvi; Lara Bossini-Castillo; F. David Carmona; Gisela Orozco; Nicolas Hunzelmann; Jörg H. W. Distler; Andre Franke; Claudio Lunardi; Gianluca Moroncini; Armando Gabrielli; Jeska de Vries-Bouwstra; Cisca Wijmenga; Bobby P. C. Koeleman; Annika Nordin; Leonid Padyukov; Anna-Maria Hoffmann-Vold; Benedicte Lie; European Scleroderma Group; Susanna Proudman; Wendy Stevens; Mandana Nikpour; Australian Scleroderma Interest Group (ASIG); Timothy Vyse; Ariane L. Herrick; Jane Worthington; Christopher P. Denton; Yannick Allanore; Matthew A. Brown; Timothy R. D. J. Radstake; Carmen Fonseca; Howard Y. Chang; Maureen D. Mayes; Javier Martin
Nature Communications, Vol 10, Iss 1, Pp 1-14 (2019)
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[검색어] Koeleman, Bobby P. C.
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