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Results 31-40 of 44 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 geneGibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, 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.
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.
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.
1997Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomySmith, A.; Marks, R.; Haan, E.; Dixon, J.; Trent, R.
1997Perinatal risk factors for developmental dysplasia of the hipChan, A.; McCaul, K.; Cundy, P.; Haan, E.; Byron-Scott, R.
2009A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technologyTalseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R.