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
Periodical
Siddiqi, Z; Allen, JA; Basta, I; Eggers, C; Guptill, J; Gwathmey, K; Hewamadduma, C; Hofman, E; Hussain, Y; Kuwabara, S; Leypoldt, F; Lin, J; Lipowska, M; Lowe, M; Lauria Pinter, G; Querol, L; Suresh, N; Chang, T; Tse, A; Ulrichts, P; van Doorn, PA; Van Hoorick, B; Yamasaki, R; Lewis, RA
The Canadian Journal of Neurological Sciences; June 2024, Vol. 51 Issue: Supplement 1 pS8-S9, 2p
Academic Journal
Lindstrand, A; Frangakis, S; Carvalho, CMB; Richardson, EB; McFadden, KA; Willer, JR; Pehlivan, D; Liu, PF; Pediaditakis, IL; Sabo, A; Lewis, RA; Banin, E; Lupski, JR; Davis, EE; Katsanis, N
American journal of human genetics. 99(2):318-336
Academic Journal
In Value in Health October-November 2017 20(9):A748-A748
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
Academic Journal
Academic Journal
Journal of Experimental Medicine. 154(4)
Academic Journal
The Journal of experimental medicine. 140(5)
Academic Journal
British Journal of Clinical Pharmacology; 1981, Vol. 12 Issue 5, p731-735, 5p
Periodical
Blood; February 1996, Vol. 87 Issue: 3 p1179-1187, 9p
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