1. Adelaide Research & Scholarship

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PreviewIssue DateTitleAuthor(s)
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
1995A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyLaing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
2005Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancyPayne, J.; Elliott, E.; D'Antoine, H.; O'Leary, C.; Mahony, A.; Haan, E.; Bower, C.
2005Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature reviewYu, S.; Baker, E.; Hinton, L.; Eyre, H.; Waters, W.; Higgins, S.; Sutherland, G.; Haan, E.
2005The Hunter-McAlpine syndrome results from duplication 5q35-qterHunter, A.; DuPont, B.; McLaughlin, M.; Hinton, L.; Baker, E.; Ades, L.; Haan, E.; Schwartz, C.
1995Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndromeDewan, P.; Brown, N.; Murthy, D.; Dnaga-Christian, B.; Haan, E.; Byard, R.; Watters, D.
1998The impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella-related terminations of pregnancy in South AustraliaCheffins, T.; Chan, A.; Keane, R.; Haan, E.; Hall, R.
2000The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South AustraliaCheffins, T.; Chan, A.; Haan, E.; Ranieri, E.; Ryall, R.; Keane, R.; Byron-Scott, R.; Scott, H.; Gjerde, E.; Nguyen, A.; Ford, J.; Sykes, S.
2011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHe, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.

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