1. Adelaide Research & Scholarship

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Results 21-30 of 32 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
1995Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndromeLudecke, H.J.; Wagner, M.; Nardmann, J.; La Pillo, B.; Parrish, J.; Willems, P.; Sutherland, G.
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.
1995Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndromeScott, H.; Blanch, L.; Guo, X.H.; Freeman, C.; Orsborn, A.; Baker, E.; Sutherland, G.; Morris, C.; Hopwood, J.
1995Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2Jones, C.; Penny, L.; Mattina, T.; Yu, S.; Baker, E.; Voullaire, L.; Langdon, W.; Sutherland, G.; Richards, R.; Tunnacliffe, A.
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
1995Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23Taske, N.; Eyre, H.; O'Brien, R.; Sutherland, G.; Denborough, M.; Foster, P.
1995Isolation and characterisation of a recombinant precursor form of lysosomal acid α-glucosidaseFuller, M.; Van der Ploeg, A.; Reuser, A.; Anson, D.; Hopwood, J.
1995Assignment of the human pyruvate carboxylase gene (PC) to 11q13.4 by fluorescence in situ hybridisationWalker, M.; Baker, E.; Wallace, J.; Sutherland, G.
1995Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508)Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C.
1995Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a 'hot-spot' for recombination at 16p12Callen, D.; Lane, S.; Kozman, H.; Kremmidiotis, G.; Whitmore, S.; Lowenstein, M.; Doggett, N.; Kenmochi, N.; Page, D.; Maglott, D.; Nierman, W.; Murakawa, K.; Sikela, J.; Houlgatte, R.; Auffray, C.; Sutherland, G.

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