Browsing byAuthorWalsh, C
Showing results 1 to 3 of 3
Issue Date | Title | Author(s) |
2019-09-01 | Pathogenic variants in PLOD3 result in a Stickler syndrome-like connective tissue disorder with vascular complications | Ewans, LJ; Colley, A; Gaston-Massuet, C; Gualtieri, A; Cowley, MJ; McCabe, MJ; Anand, D; Lachke, SA; Scietti, L; Forneris, F; Zhu, Y; Ying, K; Walsh, C; Kirk, EP; Miller, D; Giunta, C; Sillence, D; DInger, M; Buckley, M; Roscioli, T |
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 |
2023-09-25 | Why We Need a Reference Architecture for Research Data | Abramson, D; Betbeder-Matibet, L; Bird, S; Carroll, J; Francis, R; Goscinski, W; Soo, A-L; Swan, G; Walsh, C; Wightwick, G; Wilkinson, JM |