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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2023, 卷号: 110, 期号: 8, 页码: 1394+
作者:  Calame, DG;  Guo, TY;  Wang, C;  Garrett, L;  Jolly, A;  Dawood, M;  Kurolap, A;  Henig, NZ;  Fatih, JM;  Herman, I;  Du, HW;  Mitani, T;  Becker, L;  Rathkolb, B;  Gerlini, R;  Seisenberger, C;  Marschall, S;  Hunter, J;  Gerard, A;  Heidlebaugh, A;  Challman, T;  Spillmann, RC;  Jhangiani, SN;  Coban-Akdemir, Z;  Lalani, S;  Liu, LX;  Revah-Politi, A;  Iglesias, A;  Guzman, E;  Baugh, E;  Boddaert, N;  Rondeau, S;  Ormieres, C;  Barcia, G;  Tan, QKG;  Thiffault, SI;  Pastinen, T;  Sheikh, K;  Biliciler, S;  Mei, D;  Melani, F;  Shashi, V;  Yaron, Y;  Steele, M;  Wakeling, E;  Ostergaard, E;  Millan, F;  Santiago-Sim, T;  Thevenon, J;  Bruel, AL;  Thauvin-Robinet, C;  Popp, D;  Platzer, K;  Gawlinski, P;  Wiszniewski, W;  Marafi, D;  Pehlivan, D;  Posey, JE;  Gibbs, RA;  Gailus-Durner, V;  Guerrini, R;  Fuchs, H;  de Angelis, MH;  Hölter, SM;  Cheung, HH;  Gu, S;  Lupski, JR
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