검색결과 : 5건
No. | Article |
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1 |
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies Homsy J, Zaidi S, Shen YF, Ware JS, Samocha KE, Karczewski KJ, DePalma SR, McKean D, Wakimoto H, Gorham J, Jin SC, Deanfield J, Giardini A, Porter GA, Kim R, Bilguvar K, Lopez-Giraldez F, Tikhonova I, Mane S, Romano-Adesman A, Qi HJ, Vardarajan B, Ma LJ, Daly M, Roberts AE, Russell MW, Mital S, Newburger JW, Gaynor JW, Breitbart RE, Iossifov I, Ronemus M, Sanders SJ, Kaltman JR, Seidman JG, Brueckner M, Gelb BD, Goldmuntz E, Lifton RP, Seidman CE, Chung WK Science, 350(6265), 1262, 2015 |
2 |
De novo mutations in histone-modifying genes in congenital heart disease Zaidi S, Choi M, Wakimoto H, Ma LJ, Jiang JM, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe'er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao HY, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP Nature, 498(7453), 220, 2013 |
3 |
The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality Boskovski MT, Yuan SAL, Pedersen NB, Goth CK, Makova S, Clausen H, Brueckner M, Khokha MK Nature, 504(7480), 456, 2013 |
4 |
Oxidation activity and O-18-isotope exchange behavior of Cu-stabilized cubic zirconia Dongare MK, Ramaswamy V, Gopinath CS, Ramaswamy AV, Scheurell S, Brueckner M, Kemnitz E Journal of Catalysis, 199(2), 209, 2001 |
5 |
Mutation of an Axonemal Dynein Affects Left-Right Asymmetry in Inversus Viscerum Mice Supp DM, Witte DP, Potter SS, Brueckner M Nature, 389(6654), 963, 1997 |