검색결과 : 2건
| No. | Article |
|---|---|
| 1 |
Genetic regulatory variation in populations informs transcriptome analysis in rare disease Mohammadi P, Castel SE, Cummings BB, Einson J, Sousa C, Hoffman P, Donkervoort S, Jiang ZX, Mohassel P, Foley AR, Wheeler HE, Im HK, Bonnemann CG, MacArthur DG, Lappalainen T Science, 366(6463), 351, 2019 |
| 2 |
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia Deng HX, Chen WJ, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang HJ, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T Nature, 477(7363), 211, 2011 |