Adelaide Research & Scholarship
Browsing "Medicine" by Author Waddell, L.B.
Showing results 1 to 3 of 3
Preview | Issue Date | Title | Author(s) |
| 2018 | Congenital Titinopathy: Comprehensive characterization and pathogenic insights | Oates, E.C.; Jones, K.J.; Donkervoort, S.; Charlton, A.; Brammah, S.; Smith, J.E.; Ware, J.S.; Yau, K.S.; Swanson, L.C.; Whiffin, N.; Peduto, A.J.; Bournazos, A.; Waddell, L.B.; Farrar, M.A.; Sampaio, H.A.; Teoh, H.L.; Lamont, P.J.; Mowat, D.; Fitzsimons, R.B.; Corbett, A.J.; et al. |
| 2019 | Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assembly | Bryen, S.J.; Joshi, H.; Evesson, F.J.; Girard, C.; Ghaoui, R.; Waddell, L.B.; Testa, A.C.; Cummings, B.; Arbuckle, S.; Graf, N.; Webster, R.; MacArthur, D.G.; Laing, N.G.; Davis, M.R.; Lührmann, R.; Cooper, S.T. |
| 2019 | Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin | Riley, L.G.; Waddell, L.B.; Ghaoui, R.; Evesson, F.J.; Cummings, B.B.; Bryen, S.J.; Joshi, H.; Wang, M.X.; Brammah, S.; Kritharides, L.; Corbett, A.; MacArthur, D.G.; Cooper, S.T. |