학술논문
'학술논문'
에서 검색결과 11건 | 목록
1~10
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
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)
Academic Journal
Gillentine, MA; Wang, TY; Hoekzema, K; Rosenfeld, J; Liu, PF; Guo, H; Kim, CN; De Vries, BBA; Vissers, LELM; Nordenskjold, M; Kvarnung, M; Lindstrand, A; Nordgren, A; Gecz, J; Iascone, M; Cereda, A; Scatigno, A; Maitz, S; Zanni, G; Bertini, E; Zweier, C; Schuhmann, S; Wiesener, A; Pepper, M; Panjwani, H; Torti, E; Abid, F; Anselm, I; Srivastava, S; Atwal, P; Bacino, CA; Bhat, G; Cobian, K; Bird, LM; Friedman, J; Wright, MS; Callewaert, B; Petit, F; Mathieu, S; Afenjar, A; Christensen, CK; White, KM; Elpeleg, O; Berger, I; Espineli, EJ; Fagerberg, C; Brasch-Andersen, C; Hansen, LK; Feyma, T; Hughes, S; Thiffault, I; Sullivan, B; Yan, S; Keller, K; Keren, B; Mignot, C; Kooy, F; Meuwissen, M; Basinger, A; Kukolich, M; Philips, M; Ortega, L; Drummond-Borg, M; Lauridsen, M; Sorensen, K; Lehman, A; Lopez-Rangel, E; Levy, P; Lessel, D; Lotze, T; Madan-Khetarpal, S; Sebastian, J; Vento, J; Vats, D; Benman, LM; Mckee, S; Mirzaa, GM; Muss, C; Pappas, J; Peeters, H; Romano, C; Elia, M; Galesi, O; Simon, MEH; van Gassen, KLI; Simpson, K; Stratton, R; Syed, S; Thevenon, J; Palafoll, IV; Vitobello, A; Bournez, M; Faivre, L; Xia, K; Earl, RK; Nowakowski, T; Bernier, RA; Eichler, EE
Genome medicine. 13(1):63
Academic Journal
Wang, TY; Hoekzema, K; Vecchio, D; Wu, HD; Sulovari, A; Coe, BP; Gillentine, MA; Wilfert, AB; Perez-Jurado, LA; Kvarnung, M; Sleyp, Y; Earl, RK; Rosenfeld, JA; Geisheker, MR; Han, L; Du, B; Barnett, C; Thompson, E; Shaw, M; Carroll, R; Friend, K; Catford, R; Palmer, EE; Zou, XB; Ou, JJ; Li, HH; Guo, H; Gerdts, J; Avola, E; Calabrese, G; Elia, M; Greco, D; Lindstrand, A; Nordgren, A; Anderlid, BM; Vandeweyer, G; Van Dijck, A; Van der Aa, N; McKenna, B; Hancarova, M; Bendova, S; Havlovicova, M; Malerba, G; Bernardina, BD; Muglia, P; van Haeringen, A; Hoffer, MJV; Franke, B; Cappuccio, G; Delatycki, M; Lockhart, PJ; Manning, MA; Liu, PF; Scheffer, IE; Brunetti-Pierri, N; Rommelse, N; Amaral, DG; Santen, GWE; Trabetti, E; Sedlacek, Z; Michaelson, JJ; Pierce, K; Courchesne, E; Kooy, RF; Nordenskjold, M; Romano, C; Peeters, H; Bernier, RA; Gecz, J; Xia, K; Eichler, EE
Nature communications. 11(1):5398
Academic Journal
Wang, T; Hoekzema, K; Vecchio, D; Wu, HD; Sulovari, A; Coe, BP; Gillentine, MA; Wilfert, AB; Perez-Jurado, LA; Kvarnung, M; Sleyp, Y; Earl, RK; Rosenfeld, JA; Geisheker, MR; Han, L; Du, B; Barnett, C; Thompson, E; Shaw, M; Carroll, R; Friend, K; Catford, R; Palmer, EE; Zou, XB; Ou, JJ; Li, HH; Guo, H; Gerdts, J; Avola, E; Calabrese, G; Elia, M; Greco, D; Lindstrand, A; Nordgren, A; Anderlid, BM; Vandeweyer, G; Van Dijck, A; Van der Aa, N; McKenna, B; Hancarova, M; Bendova, S; Havlovicova, M; Malerba, G; Dalla Bernardina, B; Muglia, P; van Haeringen, A; Hoffer, MJV; Franke, B; Cappuccio, G; Delatycki, M; Lockhart, PJ; Manning, MA; Liu, PF; Scheffer, IE; Brunetti-Pierri, N; Rommelse, N; Amaral, DG; Santen, GWE; Trabetti, E; Sedlacek, Z; Michaelson, JJ; Pierce, K; Courchesne, E; Kooy, RF; Nordenskjold, M; Romano, C; Peeters, H; Bernier, RA; Gecz, J; Xia, K; Eichler, EE
Nature communications. 11(1):4932
Academic Journal
Geisheker, MR; Heymann, G; Wang, TY; Coe, BP; Turner, TN; Stessman, HAF; Hoekzema, K; Kvarnung, M; Shaw, M; Friend, K; Liebelt, J; Barnett, C; Thompson, EM; Haan, E; Guo, H; Anderlid, BM; Nordgren, A; Lindstrand, A; Vandeweyer, G; Alberti, A; Avola, E; Vinci, M; Giusto, S; Pramparo, T; Pierce, K; Nalabolu, S; Michaelson, JJ; Sedlacek, Z; Santen, GWE; Peeters, H; Hakonarson, H; Courchesne, E; Romano, C; Kooy, RF; Bernier, RA; Nordenskjold, M; Gecz, J; Xia, K; Zweifel, LS; Eichler, EE
Nature neuroscience. 20(8):1043
Academic Journal
Stessman, HAF; Xiong, B; Coe, BP; Wang, TY; Hoekzema, K; Fenckova, M; Kvarnung, M; Gerdts, J; Trinh, S; Cosemans, N; Vives, L; Lin, J; Turner, TN; Santen, G; Ruivenkamp, C; Kriek, M; van Haeringen, A; Aten, E; Friend, K; Liebelt, J; Barnett, C; Haan, E; Shaw, M; Gecz, J; Anderlid, BM; Nordgren, A; Lindstrand, A; Schwartz, C; Kooy, RF; Vandeweyer, G; Helsmoortel, C; Romano, C; Alberti, A; Vinci, M; Avola, E; Giusto, S; Courchesne, E; Pramparo, T; Pierce, K; Nalabolu, S; Amaral, DG; Scheffer, IE; Delatycki, MB; Lockhart, PJ; Hormozdiari, F; Harich, B; Castells-Nobau, A; Xia, K; Peeters, H; Nordenskjold, M; Schenck, A; Bernier, RA; Eichler, EE
Nature genetics. 49(4):515
Conference
Kvarnung, M; Wang, T; Hoekzema, K; Vecchio, D; Wu, H; Sulovari, A; Coe, BP; Gillentine, MA; Wilfert, AB; Lindstrand, A; Nordgren, A; Anderlid, B; Rosenfeld, JA; Liu, P; Scheffer, IE; Brunetti-Perri, N; Rommelse, N; Amaral, DG; Santen, GWE; Trabetti, E; Sedlacek, Z; Michaelson, JJ; Pierce, K; Courchesne, E; Kooy, FR; Romano, C; Peeters, H; Bernier, RA; Gecz, J; Xia, K; Eichler, EE; Nordenskjold, M
EUROPEAN JOURNAL OF HUMAN GENETICS. 28(SUPPL 1):3-4
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