검색결과 : 5건
| No. | Article |
|---|---|
| 1 |
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang YP, Burkhardt JK, Latour S, Chen BY, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ Science, 369(6500), 202, 2020 |
| 2 |
Mus81 and converging forks limit the mutagenicity of replication fork breakage Mayle R, Campbell IM, Beck CR, Yu Y, Wilson M, Shaw CA, Bjergbaek L, Lupski JR, Ira G Science, 349(6249), 742, 2015 |
| 3 |
Genome Mosaicism-One Human, Multiple Genomes Lupski JR Science, 341(6144), 358, 2013 |
| 4 |
Rare day to highlight rare diseases Gasser SM, Lupski JR, Le Cam Y, Menzel O Nature, 481(7381), 265, 2012 |
| 5 |
Mutation of the Stargardt-Disease Gene (Abcr) in Age-Related Macular Degeneration Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, Peiffer A, Zabriskie NA, Li YX, Hutchinson A, Dean M, Lupski JR, Leppert M Science, 277(5333), 1805, 1997 |