Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Artigo
|
Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorderUddin, Mohammed ; Tammimies, Kristiina ; Pellecchia, Giovanna ; Alipanahi, Babak ; Hu, Pingzhao ; Wang, Zhuozhi ; Pinto, Dalila ; Lau, Lynette ; Nalpathamkalam, Thomas ; Marshall, Christian R ; Blencowe, Benjamin J ; Frey, Brendan J ; Merico, Daniele ; Yuen, Ryan K C ; Scherer, Stephen WNature genetics, 2014-07, Vol.46 (7), p.742-747 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
|
2 |
Material Type: Artigo
|
Mutations in SUFU predispose to medulloblastomaRutka, James T ; Hogg, David ; Taylor, Michael D ; Liu, Ling ; Raffel, Corey ; Hui, Chi-chung ; Mainprize, Todd G ; Zhang, Xiaoyun ; Agatep, Ron ; Chiappa, Sharon ; Gao, Luzhang ; Lowrance, Anja ; Hao, Aihau ; Goldstein, Alisa M ; Stavrou, Theodora ; Scherer, Stephen W ; Dura, Wieslaw T ; Wainwright, Brandon ; Squire, Jeremy ANature genetics, 2002-07, Vol.31 (3), p.306-310 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
|
3 |
Material Type: Artigo
|
Fusion of two novel genes, RBM15 and MKL1 , in the t(1;22)(p13;q13) of acute megakaryoblastic leukemiaMorris, Stephan W ; Hitzler, Johann K ; Ma, Zhigui ; Valentine, Virginia ; L, Martin ; Herbrick, Jo-Anne ; Cui, Xiaoli ; Bouman, Derek ; Li, Yue ; Mehta, Perdeep K ; Nizetic, Dean ; Kaneko, Yasuhiko ; Chan, Godfrey C.F ; Chan, Li C ; Squire, Jeremy ; Scherer, Stephen WNature genetics, 2001-07, Vol.28 (3), p.220-221 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
|
4 |
Material Type: Artigo
|
Germline and somatic mutations in the tyrosine kinase domain of the MET proto-oncogene in papillary renal carcinomasSchmidt, Laura ; Duh, Fuh-Mei ; Chen, Fan ; Kishida, Takeshi ; Glenn, Gladys ; Choyke, Peter ; Scherer, Stephen W ; Zhuang, Zhenping ; Lubensky, Irina ; Dean, Michael ; Allikmets, Rando ; Chidambaram, Abi ; Bergerheim, Ulf R ; Feltis, J. Timothy ; Casadevall, Carme ; Zamarron, Agustin ; Bernues, Marta ; Richard, Stephane ; Lips, C.J.M ; Walther, McClellan M ; Tsui, Lap-Chee ; Geil, Laura ; Orcutt, Mary Lou ; Stackhouse, Thomas ; Lipan, Jami ; Slife, Leah ; Brauch, Hiltrud ; Decker, Jochen ; Niehans, Gloria ; Hughson, Michael D ; Moch, Holger ; Storkel, Stephan ; Lerman, Michael I ; Linehan, W. Marston ; Zbar, BertonNature genetics, 1997-05, Vol.16 (1), p.68-73 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |