학술논문
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Academic Journal
Rice, GI; Kitabayashi, N; Barth, M; Briggs, TA; Burton, ACE; Carpanelli, ML; Cerisola, AM; Colson, C; Dale, RC; Danti, FR; Darin, N; De Azua, B; De Giorgis, V; De Goede, CGL; Desguerre, I; De Laet, C; Eslahi, A; Fahey, MC; Fallon, P; Fay, A; Fazzi, E; Gorman, MP; Gowrinathan, NR; Hully, M; Kurian, MA; Leboucq, N; Lin, JPSM; Lines, MA; Mar, SS; Maroofian, R; Marti-Sanchez, L; McCullagh, G; Mojarrad, M; Narayanan, V; Orcesi, S; Ortigoza-Escobar, JD; Perez-Duenas, B; Petit, F; Ramsey, KM; Rasmussen, M; Rivier, F; Rodriguez-Pombo, P; Roubertie, A; Stodberg, TI; Toosi, MB; Toutain, A; Uettwiller, F; Ulrick, N; Vanderver, A; Waldman, A; Livingston, JH; Crow, YJ
Neuropediatrics. 48(3):166-184
Academic Journal
Academic Journal
Crow, YJ; Chase, DS; Schmidt, JL; Szynkiewicz, M; Forte, GMA; Gornall, HL; Oojageer, A; Anderson, B; Pizzino, A; Helman, G; Abdel-Hamid, MS; Abdel-Salam, GM; Ackroyd, S; Aeby, A; Agosta, G; Albin, C; Allon-Shalev, S; Arellano, M; Ariaudo, G; Aswani, V; Babul-Hirji, R; Baildam, EM; Bahi-Buisson, N; Bailey, KM; Barnerias, C; Barth, M; Battini, R; Beresford, MW; Bernard, G; Bianchi, M; de Villemeur, TB; Blair, EM; Bloom, M; Burlina, AB; Carpanelli, ML; Carvalho, DR; Castro-Gago, M; Cavallini, A; Cereda, C; Chandler, KE; Chitayat, DA; Collins, AE; Corcoles, CS; Cordeiro, NJV; Crichiutti, G; Dabydeen, L; Dale, RC; D'Arrigo, S; De Goede, CGEL; De Laet, C; De Waele, LMH; Denzler, I; Desguerre, I; Devriendt, K; Di Rocco, M; Fahey, MC; Fazzi, E; Ferrie, CD; Figueiredo, A; Gener, B; Goizet, C; Gowrinathan, NR; Gowrishankar, K; Hanrahan, D; Isidor, B; Kara, L; Khan, N; King, MD; Kirk, EP; Kumar, R; Lagae, L; Landrieu, P; Lauffer, H; Laugel, V; La Piana, R; Lim, MJ; Lin, JPSM; Linnankivi, T; Mackay, MT; Marom, DR; Lourenco, CM; McKee, SA; Moroni, I; Morton, JEV; Moutard, ML; Murray, K; Nabbout, R; Nampoothiri, S; Nunez-Enamorado, N; Oades, PJ; Olivieri, I; Ostergaard, JR; Perez-Duenas, B; Prendiville, JS; Ramesh, V; Rasmussen, M; Regal, L; Ricci, F; Rio, M; Rodriguez, D; Roubertie, A; Salvatici, E; Segers, KA; Sinha, GP; Soler, D; Spiegel, R; Stodberg, TI; Straussberg, R; Swoboda, KJ; Suri, M; Tacke, U; Tan, TY; Naude, JT; Teik, KW; Thomas, MM; Till, M; Tonduti, D; Valente, EM; Van Coster, RN; van der Knaap, MS; Vassallo, G; Vijzelaar, R; Vogt, J; Wallace, GB; Wassmer, E; Webb, HJ; Whitehouse, WP; Whitney, RN; Zaki, MS; Zuberi, SM; Livingston, JH; Rozenberg, F; Lebon, P; Vanderver, A; Orcesi, S; Rice, GI
American journal of medical genetics. Part A. 167(167A):296-312
Academic Journal
Jin, SC; Lewis, SA; Bakhtiari, S; Zeng, X; Sierant, MC; Shetty, S; Nordlie, SM; Elie, A; Corbett, MA; Norton, BY; van Eyk, CL; Haider, S; Guida, BS; Magee, H; Liu, JM; Pastore, S; Vincent, JB; Brunstrom-Hernandez, J; Papavasileiou, A; Fahey, MC; Berry, JG; Harper, K; Zhou, CC; Zhang, JH; Li, BY; Heim, J; Webber, DL; Frank, MSB; Xia, L; Xu, YR; Zhu, DN; Zhang, BH; Sheth, AH; Knight, JR; Castaldi, C; Tikhonova, IR; Lopez-Giraldez, F; Keren, B; Whalen, S; Buratti, J; Doummar, D; Cho, MG; Retterer, K; Millan, F; Wang, YG; Waugh, JL; Rodan, L; Cohen, JS; Fatemi, A; inE; Phillips, JP; Feyma, T; MacLennan, SC; Vaughan, S; Crompton, KE; Reid, SM; Reddihough, DS; Shang, Q; Gao, C; Novak, I; Badawi, N; Wilson, YA; McIntyre, SJ; Mane, SM; Wang, XY; Amor, DJ; Zarnescu, DC; Lu, QS; Xing, QH; Zhu, CL; Bilguvar, K; Padilla-Lopez, S; Lifton, RP; Gecz, J; MacLennan, AH; Kruer, MC
Nature genetics. 52(10):1046
Academic Journal
Vinton, A; Fahey, MC; O'Brien, TJ; Shaw, J; Storey, E; Gardner, RJM; Mitchell, PJ; Du Sart, D; King, JO
Academic Journal
Academic Journal
Fahey, MC; Knight, MA; Shaw, JH; Gardner, RJM; du Sart, D; Lockhart, PJ; Delatycki, MB; Gates, PC; Storey, E
Academic Journal
Academic Journal
Academic Journal
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