Adelaide Research & Scholarship: Search

Search

Results 11-20 of 26 (Search time: 0.003 seconds).

Item hits:

Preview	Issue Date	Title	Author(s)
	1997	FMR2 expression in families with FRAXE mental retardation	Gecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
	1997	Novel Mutations in Sanfilippo A Syndrome : Implications For Enzyme Function	Weber, B.; Guo, X.H.; Wraith, J.; Cooper, A.; Kleijer, W.; Bunge, S.; Hopwood, J.
	1995	Molecular dissection of a contiguous gene syndrome: Localization of the genes involved in the Langer-Giedion syndrome	Ludecke, H.J.; Wagner, M.; Nardmann, J.; La Pillo, B.; Parrish, J.; Willems, P.; Sutherland, G.
	1995	A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy	Laing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
	1999	Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes	Weber, B.; Guo, X.H.; Kleijer, W.; van de Kamp, J.; Poorthuis, B.; Hopwood, J.
	1995	A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy	Steinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
	1995	Molecular cloning of the cDNA encoding human skeletal muscle triadin and its localisation to chromosome 6q22-6q23	Taske, N.; Eyre, H.; O'Brien, R.; Sutherland, G.; Denborough, M.; Foster, P.
	1998	Characterization and chromosome location of the gene GSTZ1 encoding the human Zeta class glutathione transferase and maleylacetoacetate isomerase	Blackburn, A.; Woollatt, E.; Sutherland, G.; Board, P.
	1995	Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508)	Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C.
	1995	Integration of transcript and genetic maps of chromosome 16 at near-1-Mb resolution: demonstration of a 'hot-spot' for recombination at 16p12	Callen, 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.