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Showing results 1 to 4 of 4
Issue DateTitleAuthor(s)
2017-10-24A 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
2018-03-01Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectivenessPalmer, EE; Schofield, D; Shrestha, R; Kandula, T; Macintosh, R; Lawson, JA; Andrews, I; Sampaio, H; Johnson, AM; Farrar, MA; Cardamone, M; Mowat, D; Elakis, G; Lo, W; Zhu, Y; Ying, K; Morris, P; Tao, J; Dias, KR; Buckley, M; Dinger, ME; Cowley, MJ; Roscioli, T; Kirk, EP; Bye, A; Sachdev, RK
2018-02-22A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and SeizuresGennarino, VA; Palmer, EE; McDonell, LM; Wang, L; Adamski, CJ; Koire, A; See, L; Chen, CA; Schaaf, CP; Rosenfeld, JA; Panzer, JA; Moog, U; Hao, S; Bye, A; Kirk, EP; Stankiewicz, P; Breman, AM; McBride, A; Kandula, T; Dubbs, HA; Macintosh, R; Cardamone, M; Zhu, Y; Ying, K; Dias, KR; Cho, MT; Henderson, LB; Baskin, B; Morris, P; Tao, J; Cowley, MJ; Dinger, ME; Roscioli, T; Caluseriu, O; Suchowersky, O; Sachdev, RK; Lichtarge, O; Tang, J; Boycott, KM; Holder, JL; Zoghbi, HY
2023-10Physical function endpoints in cancer cachexia clinical trials: Systematic Review 1 of the cachexia endpoints series.McDonald, J; Sayers, J; Anker, SD; Arends, J; Balstad, TR; Baracos, V; Brown, L; Bye, A; Dajani, O; Dolan, R; Fallon, MT; Fraser, E; Griel, C; Grzyb, A; Hjermstad, M; Jamal-Hanjani, M; Jakobsen, G; Kaasa, S; McMillan, D; Maddocks, M; Philips, I; Ottestad, IO; Reid, KF; Sousa, MS; Simpson, MR; Vagnildhaug, OM; Skipworth, RJE; Solheim, TS; Laird, BJA; Cancer Cachexia Endpoints Working Group,