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PreviewIssue DateTitleAuthor(s)
2021Association of SLC32A1 missense variants with genetic epilepsy with febrile seizures plusHeron, S.E.; Regan, B.M.; Harris, R.V.; Gardner, A.E.; Coleman, M.J.; Bennett, M.F.; Grinton, B.E.; Helbig, K.L.; Sperling, M.R.; Haut, S.; Geller, E.B.; Widdess-Walsh, P.; Pelekanos, J.T.; Bahlo, M.; Petrovski, S.; Heinzen, E.L.; Hildebrand, M.S.; Corbett, M.A.; Scheffer, I.E.; Gecz, J.; et al.
2021Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variantsWhalen, S.; Shaw, M.; Mignot, C.; Héron, D.; Bastaraud, S.C.; Walti, C.C.; Liebelt, J.; Elmslie, F.; Yap, P.; Hurst, J.; Forsythe, E.; Kirmse, B.; Ozmore, J.; Spinelli, A.M.; Calabrese, O.; de Villemeur, T.B.; Tabet, A.C.; Levy, J.; Guet, A.; Kossorotoff, M.; et al.
2021Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utilityTudini, E.; Davidson, A.L.; Dressel, U.; Andrews, L.; Antill, Y.; Crook, A.; Field, M.; Gattas, M.; Harris, R.; Kirk, J.; Pachter, N.; Salmon, L.; Susman, R.; Townshend, S.; Trainer, A.H.; Tucker, K.M.; Mitchell, G.; James, P.A.; Ward, R.L.; Mar Fan, H.; et al.
2021Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort studyWin, A.K.; Dowty, J.G.; Reece, J.C.; Lee, G.; Templeton, A.S.; Plazzer, J.P.; Buchanan, D.D.; Akagi, K.; Aksoy, S.; Alonso, A.; Alvarez, K.; Amor, D.J.; Ankathil, R.; Aretz, S.; Arnold, J.L.; Aronson, M.; Austin, R.; Backman, A.S.; Bajwa-ten Broeke, S.W.; Barca-Tierno, V.; et al.

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