Adelaide Research & Scholarship
Browsing "Genetics publications" by Author Carroll, R.
Showing results 1 to 3 of 3
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. |
| 2017 | Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations | Corbett, M.; Turner, S.; Gardner, A.; Silver, J.; Stankovich, J.; Leventer, R.; Derry, C.; Carroll, R.; Ha, T.; Scheffer, I.; Bahlo, M.; Jackson, G.; Mackey, D.; Berkovic, S.; Gecz, J. |
| 2020 | Two novel intragenic variants in the FMR1 gene in patients with suspect clinical diagnosis of Fragile X syndrome and no CGG repeat expansion | Carroll, R.; Shaw, M.; Arvio, M.; Gardner, A.; Kumar, R.; Hodgson, B.; Heron, S.; McKenzie, F.; Järvelä, I.; Gecz, J. |