학술논문
'학술논문'
에서 검색결과 57건 | 목록
10~20
Academic Journal
Ek, M; Nilsson, D; Engvall, M; Malmgren, H; Thonberg, H; Pettersson, M; Anderlid, BM; Hammarsjo, A; Helgadottir, HT; Arnardottir, S; Naess, K; Nennesmo, I; Paucar, M; Hjartarson, HT; Press, R; Solders, G; Sejersen, T; Lindstrand, A; Kvarnung, M
Frontiers in neurology. 14:1170005
Academic Journal
Helbig, KL; Lauerer, RJ; Bahr, JC; Souza, IA; Myers, CT; Uysal, B; Schwarz, N; Gandini, MA; Huang, S; Keren, B; Mignot, C; Afenjar, A; de Villemeur, TB; Heron, D; Nava, C; Valence, S; Buratti, J; Fagerberg, CR; Soerensen, KP; Kibaek, M; Kamsteeg, EJ; Koolen, DA; Gunning, B; Schelhaas, HJ; Kruer, MC; Fox, J; Bakhtiari, S; Jarrar, R; Padilla-Lopez, S; Lindstrom, K; Jin, SC; Zeng, X; Bilguvar, K; Papavasileiou, A; Xin, QH; Zhu, CL; Boysen, K; Vairo, F; Lanpher, BC; Klee, EW; Tillema, JM; Payne, ET; Cousin, MA; Kruisselbrink, TM; Wick, MJ; Baker, J; Haan, E; Smith, N; Corbett, MA; MacLennan, AH; Gecz, J; Biskup, S; Goldmann, E; Rodan, LH; Kichula, E; Segal, E; Jackson, KE; Asamoah, A; Dimmock, D; McCarrier, J; Botto, LD; Filloux, F; Tvrdik, T; Cascino, GD; Klingerman, S; Neumann, C; Wang, R; Jacobsen, JC; Nolan, MA; Snell, RG; Lehnert, K; Sadleir, LG; Anderlid, BM; Kvarnung, M; Guerrini, R; Friez, MJ; Lyons, MJ; Leonhard, J; Kringlen, G; Casas, K; El Achkar, CM; Smith, LA; Rotenberg, A; Poduri, A; Sanchis-Juan, A; Carss, KJ; Rankin, J; Zeman, A; Raymond, FL; Blyth, M; Kerr, B; Ruiz, K; Urquhart, J; Hughes, I; Banka, S; Hedrich, UBS; Scheffer, IE; Helbig, I; Zamponi, GW; Lerche, H; Mefford, HC
American journal of human genetics. 103(5):666-678
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
Wang, HC; Salter, CG; Refai, O; Hardy, H; Barwick, KES; Akpulat, U; Kvarnung, M; Chioza, BA; Harlalka, G; Taylan, F; Sejersen, T; Wright, J; Zimmerman, HH; Karakaya, M; Stuve, B; Weis, J; Schara, U; Russell, MA; Abdul-Rahman, OA; Chilton, J; Blakely, RD; Baple, EL; Cirak, S; Crosby, AH
Brain : a journal of neurology. 140(11):2838-2850
Academic Journal
Bengani, H; Handley, M; Alvi, M; Ibitoye, R; Lees, M; Lynch, SA; Lam, W; Fannemel, M; Nordgren, A; Malmgren, H; Kvarnung, M; Mehta, S; McKee, S; Whiteford, M; Stewart, F; Connell, F; Clayton-Smith, J; Mansour, S; Mohammed, S; Fryer, A; Morton, J; Grozeva, D; Asam, T; Moore, D; Sifrim, A; McRae, J; Hurles, ME; Firth, HV; Raymond, FL; Kini, U; Nellaker, C; FitzPatrick, DR
Genetics in medicine : official journal of the American College of Medical Genetics. 19(8):900-908
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
Jansen, S; Geuer, S; Pfundt, R; Brough, R; Ghongane, P; Herkert, JC; Marco, EJ; Willemsen, MH; Kleefstra, T; Hannibal, M; Shieh, JT; Lynch, SA; Flinter, F; FitzPatrick, DR; Gardham, A; Bernhard, B; Ragge, N; Newbury-Ecob, R; Bernier, R; Kvarnung, M; Magnusson, EAH; Wessels, MW; van Slegtenhorst, MA; Monaghan, KG; de Vries, P; Veltman, JA; Lord, CJ; Vissers, LELM; de Vries, BBA
American journal of human genetics. 100(4):650-658
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
Neurology. Genetics. 8(3):e668
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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[AR] Kvarnung, M
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