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PreviewIssue DateTitleAuthor(s)
2021Gene selection for the Australian Reproductive Genetic Carrier Screening Project ("Mackenzie's Mission")Kirk, E.P.; Ong, R.; Boggs, K.; Hardy, T.; Righetti, S.; Ben, K.; Roscioli, T.; Amor, D.J.; Bakshi, M.; Chung, C.W.T.; Colley, A.; Jamieson, R.; Liebelt, J.; Ma, A.; Pachter, N.; Rajagopalan, S.; Ravine, A.; Wilson, M.; Caruana, J.; Casella, R.; et al.
2021Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusFrazier, A.E.; Compton, A.G.; Kishita, Y.; Hock, D.H.; Welch, A.M.E.; Amarasekera, S.S.C.; Rius, R.; Formosa, L.E.; Imai-Okazaki, A.; Francis, D.; Wang, M.; Lake, N.J.; Tregoning, S.; Jabbari, J.S.; Lucattini, A.; Nitta, K.R.; Ohtake, A.; Murayama, K.; Amor, D.J.; McGillivray, G.; 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.
2022Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsKayumi, S.; Pérez-Jurado, L.A.; Palomares, M.; Rangu, S.; Sheppard, S.E.; Chung, W.K.; Kruer, M.C.; Kharbanda, M.; Amor, D.J.; McGillivray, G.; Cohen, J.S.; García-Miñaúr, S.; van Eyk, C.L.; Harper, K.; Jolly, L.A.; Webber, D.L.; Barnett, C.P.; Santos-Simarro, F.; Pacio-Míguez, M.; Pozo, A.D.; et al.

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