학술논문
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Academic Journal
Wiessner, M; Maroofian, R; Ni, MY; Pedroni, A; Muller, JS; Stucka, R; Beetz, C; Efthymiou, S; Santorelli, FM; Alfares, AA; Zhu, CL; Meszarosova, AU; Alehabib, E; Bakhtiari, S; Janecke, AR; Otero, MG; Chen, JYH; Peterson, JT; Strom, TM; De Jonghe, P; Deconinck, T; De Ridder, W; De Winter, J; Pasquariello, R; Ricca, I; Alfadhel, M; van de Warrenburg, BP; Portier, R; Bergmann, C; Firouzabadi, SG; Jin, SC; Bilguvar, K; Hamed, S; Abdelhameed, M; Haridy, NA; Maqbool, S; Rahman, F; Anwar, N; Carmichael, J; Pagnamenta, A; Wood, NW; Mau-Them, FT; Haack, T; Di Rocco, M; Ceccherini, I; Iacomino, M; Zara, F; Salpietro, V; Scala, M; Rusmini, M; Xu, YR; Wang, YH; Suzuki, Y; Koh, K; Nan, HT; Ishiura, H; Tsuji, S; Lambert, L; Schmitt, E; Lacaze, E; Kupper, H; Dredge, D; Skraban, C; Goldstein, A; Willis, MJH; Grand, K; Graham, JM; Lewis, RA; Millan, F; Duman, O; Dundar, N; Uyanik, G; Schols, L; Nurnberg, P; Nurnberg, G; Bordes, AC; Seeman, P; Kuchar, M; Darvish, H; Rebelo, A; Boucanova, F; Medard, JJ; Chrast, R; Auer-Grumbach, M; Alkuraya, FS; Shamseldin, H; Al Tala, S; Varaghchi, JR; Najafi, M; Deschner, S; Glaser, D; Huttel, W; Kruer, MC; Kamsteeg, EJ; Takiyama, Y; Zuchner, S; Baets, J; Synofzik, M; Schule, R; Horvath, R; Houlden, H; Bartesaghi, L; Lee, HJ; Ampatzis, K; Pierson, TM; Senderek, J
Brain : a journal of neurology. 144(5):1422-1434
Academic Journal
Lewis, H; Samanta, D; Orsell, JL; Bosanko, KA; Rowell, A; Jones, M; Dale, RC; Taravath, S; Hahn, CD; Krishnakumar, D; Chagnon, S; Keller, S; Hagebeuk, E; Pathak, S; Bebin, EM; Arndt, DH; Alexander, JJ; Mainali, G; Coppola, G; Maclean, J; Sparagana, S; McNamara, N; Smith, DM; Raggio, V; Cruz, M; Fernandez-Jaen, A; Kava, MP; Emrick, L; Fish, JL; Vanderver, A; Helman, G; Pierson, TM; Zarate, YA
Pediatric neurology. 112:94-100
Academic Journal
Hjelm, BE; Grunseich, C; Gowing, G; Avalos, P; Tian, J; Shelley, BC; Mooney, M; Narwani, K; Shi, Y; Svendsen, CN; Wolfe, JH; Fischbeck, KH; Pierson, TM
Gene Therapy. 23(5)
Electronic Resource
Ben Yaou, R; Yun, P; Dabaj, I; Norato, G; Donkervoort, S; Xiong, H; Nascimento, A; Maggi, L; Sarkozy, A; Monges, S; Bertoli, M; Komaki, H; Mayer, M; Mercuri, E; Zanoteli, E; Castiglioni, C; Marini-Bettolo, C; D'Amico, A; Deconinck, N; Desguerre, I; Erazo-Torricelli, R; Gurgel-Giannetti, J; Ishiyama, A; Kleinsteuber, KS; Lagrue, E; Laugel, V; Mercier, S; Messina, S; Politano, L; Ryan, MM; Sabouraud, P; Schara, U; Siciliano, G; Vercelli, L; Voit, T; Yoon, G; Alvarez, R; Muntoni, F; Pierson, TM; Gomez-Andres, D; Foley, AR; Quijano-Roy, S; Bonnemann, CG; Bonne, G
Electronic Resource
Nabais Sá, MJ; Jensik, PJ; McGee, SR; Parker, MJ; Lahiri, N; McNeil, EP; Kroes, HY; Hagerman, RJ; Harrison, RE; Montgomery, T; Splitt, M; Palmer, EE; Sachdev, RK; Mefford, HC; Scott, AA; Martinez-Agosto, JA; Lorenz, R; Orenstein, N; Berg, JN; Amiel, J; Heron, D; Keren, B; Cobben, JM; Menke, LA; Marco, EJ; Graham, JM; Pierson, TM; Karimiani, EG; Maroofian, R; Manzini, MC; Cauley, ES; Colombo, R; Odent, S; Dubourg, C; Phornphutkul, C; de Brouwer, APM; de Vries, BBA; Vulto-vanSilfhout, AT
Electronic Resource
Ng, BG; Sosicka, P; Agadi, S; Almannai, M; Bacino, CA; Barone, R; Botto, LD; Burton, JE; Carlston, C; Chung, BH-Y; Cohen, JS; Coman, D; Dipple, KM; Dorrani, N; Dobyns, WB; Elias, AF; Epstein, L; Gahl, WA; Garozzo, D; Hammer, TB; Haven, J; Heron, D; Herzog, M; Hoganson, GE; Hunter, JM; Jain, M; Juusola, J; Lakhani, S; Lee, H; Lee, J; Lewis, K; Longo, N; Lourenco, CM; Mak, CCY; McKnight, D; Mendelsohn, BA; Mignot, C; Mirzaa, G; Mitchell, W; Muhle, H; Nelson, SF; Olczak, M; Palmer, CGS; Partikian, A; Patterson, MC; Pierson, TM; Quinonez, SC; Regan, BM; Ross, ME; Guillen Sacoto, MJ; Scaglia, F; Scheffer, IE; Segal, D; Singhal, NS; Striano, P; Sturiale, L; Symonds, JD; Tang, S; Vilain, E; Willis, M; Wolfe, LA; Yang, H; Yano, S; Powis, Z; Suchy, SF; Rosenfeld, JA; Edmondson, AC; Grunewald, S; Freeze, HH
Academic Journal
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