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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
Adobe PDF(4359Kb)  |  收藏  |  浏览/下载：40/0  |  提交时间：2024/06/21
The Earth BioGenome Project 2020: Starting the clock 期刊论文
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2022, 卷号: 119, 期号: 4
作者:  Lewin, HA;  Richards, S;  Aiden, EL;  Allende, ML;  Archibald, JM;  Balint, M;  Barker, KB;  Baumgartner, B;  Belov, K;  Bertorelle, G;  Blaxter, ML;  Cai, J;  Caperello, ND;  Carlson, K;  Castilla-Rubio, JC;  Chaw, SM;  Chen, L;  Childers, AK;  Coddington, JA;  Conde, DA;  Corominas, M;  Crandall, KA;  Crawford, AJ;  DiPalma, F;  Durbin, R;  Ebenezer, TE;  Edwards, SV;  Fedrigo, O;  Flicek, P;  Formenti, G;  Gibbs, RA;  Gilbert, MTP;  Goldstein, MM;  Graves, JM;  Greely, HT;  Grigoriev, IV;  Hackett, KJ;  Hall, N;  Haussler, D;  Helgen, KM;  Hogg, CJ;  Isobe, S;  Jakobsen, KS;  Janke, A;  Jarvis, ED;  Johnson, WE;  Jones, SJM;  Karlsson, EK;  Kersey, PJ;  Kim, JH;  Kress, WJ;  Kuraku, S;  Lawniczak, MKN;  Leebens-Mack, JH;  Li, XY;  Lindblad-Toh, K;  Liu, X;  Lopez, JV;  Marques-Bonet, T;  Mazard, S;  Mazet, JAK;  Mazzoni, CJ;  Myers, EW;  O'Neill, RJ;  Paez, S;  Park, H;  Robinson, GE;  Roquet, C;  Ryder, OA;  Sabir, JSM;  Shaffer, HB;  Shank, TM;  Sherkow, JS;  Soltis, PS;  Tang, BP;  Tedersoo, L;  Uliano-Silva, M;  Wang, K;  Wei, XF;  Wetzer, R;  Wilson, JL;  Xu, X;  Yang, HM;  Yoder, AD;  Zhang, GJ
Adobe PDF(1428Kb)  |  收藏  |  浏览/下载：1146/0  |  提交时间：2023/04/12