학술논문
'학술논문'
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Academic Journal
Fuerte, EPA; Nguyen, J; Mehaffey, M; Sulovari, A; Wang, TY; Galey, M; Miller, DE; Eichler, EE; Mefford, HC; Khalil, BA; Afawi, ZA; Allen, AS; Amrom, D; Andermann, E; Bautista, JF; Bellows, ST; Berkovic, SF; Bluvstein, J; Boro, A; Burgess, R; Cascino, GD; Chung, SK; Consalvo, D; Cossette, P; Crompton, DE; Crumrine, P; Curtis, SW; Delanty, N; Devinsky, O; Dlugos, D; Ellis, CA; Epstein, MP; Fiol, M; Fountain, NB; Freyer, C; Friedman, D; Geller, EB; Glauser, T; Glynn, S; Goldstein, DB; Gravel, M; Haas, K; Harris, RV; Haut, S; Heinzen, EL; Helmers, S; Henry, OJ; Joshi, S; Kirsch, HE; Kivity, S; Knowlton, RC; Kossoff, E; Kuzniecky, R; Loeb, R; Lowenstein, DH; Marson, AG; McCormack, M; McGuire, SM; McKenna, K; Motika, PV; Mullen, SA; Novotny, EJ; O'Brien, TJ; Oliver, KL; Ottman, R; Paolicchi, JM; Parent, JM; Park, KL; Paterson, SJ; Petrovski, S; Pickrell, WO; Poduri, A; Rees, MI; Sadleir, LG; Scheffer, IE; Shellhaas, RA; Sherr, EH; Shih, JJ; Shinnar, S; Singh, RK; Sirven, J; Smith, MC; Smith, PEM; Sperling, MR; Sullivan, J; Thio, LL; Thomas, RH; Venkat, A; Vining, EPG; Von Allmen, GK; Weisenberg, J; Widdess-Walsh, P; Winawer, MR
Epilepsia. 65(3):792-804
Academic Journal
Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Hernandez-Garcia, A; Pedace, L; Pantaleoni, F; Liu, ZD; de Boer, E; Jackson, A; Bruselles, A; McConkey, H; Stellacci, E; Lo Cicero, S; Motta, M; Carrozzo, R; Dentici, ML; McWalter, K; Desai, M; Monaghan, KG; Telegrafi, A; Philippe, C; Vitobello, A; Au, M; Grand, K; Sanchez-Lara, PA; Baez, J; Lindstrom, K; Kulch, P; Sebastian, J; Madan-Khetarpal, S; Roadhouse, C; MacKenzie, JJ; Monteleone, B; Saunders, CJ; Cuevas, JKJ; Cross, L; Zhou, DH; Hartley, T; Sawyer, SL; Monteiro, FP; Secches, TV; Kok, F; Schultz-Rogers, LE; Macke, EL; Morava, E; Klee, EW; Kemppainen, J; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Pais, L; Gallacher, L; Turnpenny, PD; Stals, K; Ellard, S; Cabet, S; Lesca, G; Pascal, J; Steindl, K; Ravid, S; Weiss, K; Castle, AMR; Carter, MT; Kalsner, L; de Vries, BBA; van Bon, BW; Wevers, MR; Pfundt, R; Stegmann, APA; Kerr, B; Kingston, HM; Chandler, KE; Sheehan, W; Elias, AF; Shinde, DN; Towne, MC; Robin, NH; Goodloe, D; Vanderver, A; Sherbini, O; Bluske, K; Hagelstrom, RT; Zanus, C; Faletra, F; Musante, L; Kurtz-Nelson, EC; Earl, RK; Anderlid, BM; Morin, G; van Slegtenhorst, M; Diderich, KEM; Brooks, AS; Gribnau, J; Boers, RG; Finestra, TR; Carter, LB; Rauch, A; Gasparini, P; Boycott, KM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Eichler, EE; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M
American journal of human genetics. 108(3):502-516
Academic Journal
Cogne, B; Ehresmann, S; Beauregard-Lacroix, E; Rousseau, J; Besnard, T; Garcia, T; Petrovski, S; Avni, S; McWalter, K; Blackburn, PR; Sanders, SJ; Uguen, K; Harris, J; Cohen, JS; Blyth, M; Lehman, A; Berg, J; Li, MH; Kini, U; Joss, S; von der Lippe, C; Gordon, CT; Humberson, JB; Robak, L; Scott, DA; Sutton, VR; Skraban, CM; Johnston, JJ; Poduri, A; Nordenskjold, M; Shashi, V; Gerkes, EH; Bongers, EMHF; Gilissen, C; Zarate, YA; Kvarnung, M; Lally, KP; Kulch, PA; Daniels, B; Hernandez-Garcia, A; Stong, N; McGaughran, J; Retterer, K; Tveten, K; Sullivan, J; Geisheker, MR; Stray-Pedersen, A; Tarpinian, JM; Klee, EW; Sapp, JC; Zyskind, J; Holla, OL; Bedoukian, E; Filippini, F; Guimier, A; Picard, A; Busk, OL; Punetha, J; Pfundt, R; Lindstrand, A; Nordgren, A; Kalb, F; Desai, M; Ebanks, AH; Jhangiani, SN; Dewan, T; Akdemir, ZHC; Telegrafi, A; Zackai, EH; Begtrup, A; Song, XF; Toutain, A; Wentzensen, IM; Odent, S; Bonneau, D; Latypova, X; Deb, W; Redon, S; Bilan, F; Legendre, M; Troyer, C; Whitlock, K; Caluseriu, O; Murphree, MI; Pichurin, PN; Agre, K; Gavrilova, R; Rinne, T; Park, M; Shain, C; Heinzen, EL; Xiao, R; Amiel, J; Lyonnet, S; Isidor, B; Biesecker, LG; Lowenstein, D; Posey, JE; Denomme-Pichon, AS; Ferec, C; Yang, XJ; Rosenfeld, JA; Gilbert-Dussardier, B; Audebert-Bellanger, S; Redon, R; Stessman, HAF; Nellaker, C; Yang, YP; Lupski, JR; Goldstein, DB; Eichler, EE; Bolduc, F; Bezieau, S; Kury, S; Campeau, PM
American journal of human genetics. 104(3):530-541
Academic Journal
Van Dijck, A; Vulto-van Silfhout, AT; Cappuyns, E; van der Werf, IM; Mancini, GM; Tzschach, A; Bernier, R; Gozes, I; Eichler, EE; Romano, C; Lindstrand, A; Nordgren, A; Kvarnung, M; Kleefstra, T; de Vries, BBA; Kury, S; Rosenfeld, JA; Meuwissen, ME; Vandeweyer, G; Kooy, RF; Bakshi, M; Wilson, M; Berman, Y; Dickson, R; Fransen, E; Helsmoortel, C; Van den Ende, J; Van der Aa, N; van de Wijdeven, MJ; Rosenblum, J; Monteiro, F; Kok, F; Quercia, N; Bowdin, S; Dyment, D; Chitayat, D; Alkhunaizi, E; Boonen, SE; Keren, B; Jacquette, A; Faivre, L; Bezieau, S; Isidor, B; Riess, A; Moog, U; Lynch, SA; McVeigh, T; Elpeleg, O; Smeland, MF; Fannemel, M; van Haeringen, A; Maas, SM; Veenstra-Knol, HE; Schouten, M; Willemsen, MH; Marcelis, CL; Ockeloen, C; van der Burgt, I; Feenstra, I; van der Smagt, J; Jezela-Stanek, A; Krajewska-Walasek, M; Gonzalez-Lamuno, D; Anderlid, BM; Malmgren, H; Nordenskjold, M; Clement, E; Hurst, J; Metcalfe, K; Mansour, S; Lachlan, K; Clayton-Smith, J; Hendon, LG; Abdulrahman, OA; Morrow, E; McMillan, C; Gerdts, J; Peeden, J; Vergano, SAS; Valentino, C; Chung, WK; Ozmore, JR; Bedrosian-Sermone, S; Dennis, A; Treat, K; Hughes, SS; Safina, N; Le Pichon, JB; McGuire, M; Infante, E; Madan-Khetarpal, S; Desai, S; Benke, P; Krokosky, A; Cristian, I; Baker, L; Gripp, K; Stessman, HA; Eichenberger, J; Jayakar, P; Pizzino, A; Manning, MA; Slattery, L
Biological psychiatry. 85(4):287-297
Academic Journal
Jansen, S; Hoischen, A; Coe, BP; Carvill, GL; Van Esch, H; Bosch, DGM; Andersen, UA; Baker, C; Bauters, M; Bernier, RA; van Bon, BW; Claahsen-van der Grinten, HL; Gecz, J; Gilissen, C; Grillo, L; Hackett, A; Kleefstra, T; Koolen, D; Kvarnung, M; Larsen, MJ; Marcelis, C; McKenzie, F; Monin, ML; Nava, C; Schuurs-Hoeijmakers, JH; Pfundt, R; Steehouwer, M; Stevens, SJC; Stumpel, CT; Vansenne, F; Vinci, M; van de Vorst, M; de Vries, P; Witherspoon, K; Veltman, JA; Brunner, HG; Mefford, HC; Romano, C; Vissers, LELM; Eichler, EE; de Vries, BBA
European journal of human genetics : EJHG. 26(1):54-63
Academic Journal
Bramswig, NC; Ludecke, HJ; Pettersson, M; Albrecht, B; Bernier, RA; Cremer, K; Eichler, EE; Falkenstein, D; Gerdts, J; Jansen, S; Kuechler, A; Kvarnung, M; Lindstrand, A; Nilsson, D; Nordgren, A; Pfundt, R; Spruijt, L; Surowy, HM; de Vries, BBA; Wieland, T; Engels, H; Strom, TM; Kleefstra, T; Wieczorek, D
Human genetics. 136(2):179-192
Academic Journal
Johansson, PA; Brattas, PL; Douse, CH; Hsieh, PH; Adami, A; Pontis, J; Grassi, D; Garza, R; Sozzi, E; Cataldo, R; Jonsson, ME; Atacho, DAM; Pircs, K; Eren, F; Sharma, Y; Johansson, J; Fiorenzano, A; Parmar, M; Fex, M; Trono, D; Eichler, EE; Jakobsson, J
Cell stem cell. 29(1):52
Academic Journal
Stessman, HAF; Willemsen, MH; Fenckova, M; Penn, O; Hoischen, A; Xiong, B; Wang, TY; Hoekzema, K; Vives, L; Voge, I; Brunner, HG; van der Burgt, I; Ockeloen, CW; Schuurs-Hoeijmakers, JH; Wassink-Ruiter, JSK; Stumpel, C; Stevens, SJC; Vles, HS; Marcelis, CM; van Bokhoven, H; Cantagrel, V; Colleaux, L; Nicouleau, M; Lyonnet, S; Bernier, RA; Gerdts, J; Coe, BP; Romano, C; Alberti, A; Grillo, L; Scuderi, C; Nordenskjold, M; Kvarnung, M; Guo, H; Xia, K; Piton, A; Gerard, B; Genevieve, D; Delobel, B; Lehalle, D; Perrin, L; Prieur, F; Thevenon, J; Gecz, J; Shaw, M; Pfundt, R; Keren, B; Jacquette, A; Schenck, A; Eichler, EE; Kleefstra, Tz
American journal of human genetics. 98(3):541-552
Academic Journal
Guo, H; Li, Y; Shen, L; Wang, TY; Jia, XB; Liu, LJ; Xu, T; Ou, MZ; Hoekzema, K; Wu, HD; Gillentine, MA; Liu, CY; Ni, HL; Peng, PW; Zhao, RJ; Zhang, Y; Phornphutkul, C; Stegmann, APA; Prada, CE; Hopkin, RJ; Shieh, JT; McWalter, K; Monaghan, KG; van Hasselt, PM; van Gassen, K; Bai, T; Long, M; Han, L; Quan, YT; Chen, ML; Zhang, YW; Li, KK; Zhang, QM; Tan, JQ; Zhu, TF; Liu, YN; Pang, N; Peng, J; Scott, DA; Lalani, SR; Azamian, M; Mancini, GMS; Adams, DJ; Kvarnung, M; Lindstrand, A; Nordgren, A; Pevsner, J; Osei-Owusu, IA; Romano, C; Calabrese, G; Galesi, O; Gecz, J; Haan, E; Ranells, J; Racobaldo, M; Nordenskjold, M; Madan-Khetarpal, S; Sebastian, J; Ball, S; Zou, XB; Zhao, JP; Hu, ZM; Xia, F; Liu, PF; Rosenfeld, JA; de Vries, BBA; Bernier, RA; Xu, ZQD; Li, HH; Xie, W; Hufnagel, RB; Eichler, EE; Xia, K
Science advances. 5(9)
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