Adelaide Research & Scholarship
Browsing "Genetics publications" by Author Dudding-Byth, T.
Showing results 1 to 2 of 2
Preview | Issue Date | Title | Author(s) |
| 2017 | A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations | Palmer, E.E.; Kumar, R.; Gordon, C.T.; Shaw, M.; Hubert, L.; Carroll, R.; Rio, M.; Murray, L.; Leffler, M.; Dudding-Byth, T.; Oufadem, M.; Lalani, S.R.; Lewis, A.M.; Xia, F.; Tam, A.; Webster, R.; Brammah, S.; Filippini, F.; Pollard, J.; Spies, J.; et al. |
| 2019 | IQSEC2 mutation update and review of the female-specific phenotype spectrum including intellectual disability and epilepsy | Shoubridge, C.; Harvey, R.J.; Dudding-Byth, T. |