Adelaide Research & Scholarship
Browsing "Medicine" by Author Joshi, H.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 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. |