Browsing byAuthorSachdev, R
Showing results 1 to 2 of 2
Issue Date | Title | Author(s) |
2017-10-24 | A De Novo Mutation in the Sodium-Activated Potassium Channel KCNT2 Alters Ion Selectivity and Causes Epileptic Encephalopathy. | Gururaj, S; Palmer, EE; Sheehan, GD; Kandula, T; Macintosh, R; Ying, K; Morris, P; Tao, J; Dias, K-R; Zhu, Y; Dinger, ME; Cowley, MJ; Kirk, EP; Roscioli, T; Sachdev, R; Duffey, ME; Bye, A; Bhattacharjee, A |
2018-12-01 | Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders | Ewans, LJ; Schofield, D; Shrestha, R; Zhu, Y; Gayevskiy, V; Ying, K; Walsh, C; Lee, E; Kirk, EP; Colley, A; Ellaway, C; Turner, A; Mowat, D; Worgan, L; Freckmann, ML; Lipke, M; Sachdev, R; Miller, D; Field, M; Dinger, ME; Buckley, MF; Cowley, MJ; Roscioli, T |