학술논문
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Academic Journal
Shashi, V; Magiera, MM; Klein, D; Zaki, M; Schoch, K; Rudnik-Schoneborn, S; Norman, A; Neto, OLA; Dusl, M; Yuan, XD; Bartesaghi, L; De Marco, P; Alfares, AA; Marom, R; Arold, ST; Guzman-Vega, FJ; Pena, LDM; Smith, EC; Steinlin, M; Babiker, MOE; Mohassel, P; Foley, AR; Donkervoort, S; Kaur, R; Ghosh, PS; Stanley, V; Musaev, D; Nava, C; Mignot, C; Keren, B; Scala, M; Tassano, E; Picco, P; Doneda, P; Fiorillo, C; Issa, MY; Alassiri, A; Alahmad, A; Gerard, A; Liu, PF; Yang, YP; Ertl-Wagner, B; Kranz, PG; Wentzensen, IM; Stucka, R; Stong, N; Allen, AS; Goldstein, DB; Schoser, B; Rosler, KM; Alfadhel, M; Capra, V; Chrast, R; Strom, TM; Kamsteeg, EJ; Bonnemann, CG; Gleeson, JG; Martini, R; Janke, C; Senderek, J
The EMBO journal. 37(23)
Electronic Resource
AlMuhaizea, M; AlMass, R; AlHargan, A; AlBader, A; Medico Salsench, Eva; Howaidi, J; Ihinger, J; Karachunski, P; Begtrup, A; Segura Castell, M; Bauer, P; Bertoli-Avella, A; Kaya, IH; AlSufayan, J; AlQuait, L; Chedrawi, A; Arold, ST; Colak, D; Barakat, Stefan; Kaya, N
AlMuhaizea , M , AlMass , R , AlHargan , A , AlBader , A , Medico Salsench , E , Howaidi , J , Ihinger , J , Karachunski , P , Begtrup , A , Segura Castell , M , Bauer , P , Bertoli-Avella , A , Kaya , IH , AlSufayan , J , AlQuait , L , Chedrawi , A , Arold , ST , Colak , D , Barakat , S & Kaya , N 2020 , ' Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy ' , Acta Neuropathologica , vol. 139 , no. 4 , pp. 791-794 .
Electronic Resource
Palmer, EE; Hong, S; Al Zahrani, F; Hashem, MO; Aleisa, FA; Ahmed, HMJ; Kandula, T; Macintosh, R; Minoche, A; Puttick, C; Gayevskiy, V; Drew, AP; Cowley, MJ; Dinger, ME; Rosenfeld, JA; Xiao, R; Cho, MT; Henderson, LB; Sacoto, MJG; Begtrup, A; Hamad, M; Shinawi, M; Andrews, M; Jones, MC; Lindstrom, K; Kayani, S; Snyder, M; Villanueva, M; Schteinschnaider, A; Roscioli, T; Kirk, EP; Bye, A; Merzaban, J; Jaremko, L; Jaremko, M; Sachdev, RK; Alkuraya, FS; Arold, ST
Electronic Resource
Palmer, EE; Hong, S; Al Zahrani, F; Hashem, MO; Aleisa, FA; Jalal Ahmed, HM; Kandula, T; Macintosh, R; Minoche, AE; Puttick, C; Gayevskiy, V; Drew, AP; Cowley, MJ; Dinger, M; Rosenfeld, JA; Xiao, R; Cho, MT; Yakubu, SF; Henderson, LB; Guillen Sacoto, MJ; Begtrup, A; Hamad, M; Shinawi, M; Andrews, MV; Jones, MC; Lindstrom, K; Bristol, RE; Kayani, S; Snyder, M; Villanueva, MM; Schteinschnaider, A; Faivre, L; Thauvin, C; Vitobello, A; Roscioli, T; Kirk, EP; Bye, A; Merzaban, J; Jaremko, Ł; Jaremko, M; Sachdev, RK; Alkuraya, FS; Arold, ST
Electronic Resource
Palmer, EE; Hong, S; Al Zahrani, F; Hashem, MO; Aleisa, FA; Ahmed, HMJ; Kandula, T; Macintosh, R; Minoche, AE; Puttick, C; Gayevskiy, V; Drew, AP; Cowley, MJ; Dinger, M; Rosenfeld, JA; Xiao, R; Cho, MT; Yakubu, SF; Henderson, LB; Guillen Sacoto, MJ; Begtrup, A; Hamad, M; Shinawi, M; Andrews, MV; Jones, MC; Lindstrom, K; Bristol, RE; Kayani, S; Snyder, M; Villanueva, MM; Schteinschnaider, A; Faivre, L; Thauvin, C; Vitobello, A; Roscioli, T; Kirk, EP; Bye, A; Merzaban, J; Jaremko, Ł; Jaremko, M; Sachdev, RK; Alkuraya, FS; Arold, ST
Academic Journal
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