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Results 21-30 of 32 (Search time: 0.001 seconds).
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PreviewIssue DateTitleAuthor(s)
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
1997Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 geneSampson, J.; Maheshwar, M.; Aspinwall, R.; Thompson, P.; Cheadle, J.; Ravine, D.; Roy, S.; Haan, E.; Bernstein, J.; Harris, P.
1995Localization of craniosynostosis Adelaide type to 4p16Hollway, G.; Phillips, H.; Ades, L.; Haan, E.; Muley, J.
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.
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.
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.
1998What constitutes cerebral palsy?Badawi, N.; Watson, L.; Petterson, B.; Blair, E.; Slee, J.; Haan, E.; Stanley, F.
1997Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomySmith, A.; Marks, R.; Haan, E.; Dixon, J.; Trent, R.
1995Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508)Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C.