Adelaide Research & Scholarship: Search

Search

Results 31-40 of 52 (Search time: 0.003 seconds).

previous
1
2
3
4
5
6
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2004	Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation	Weaving, L.; Christodoulou, J.; Williamson, S.; Friend, K.; McKenzie, O.; Archer, H.; Evans, J.; Clarke, A.; Pelka, G.; Tam, P.; Watson, C.; Lahooti, H.; Ellaway, C.; Bennetts, B.; Leonard, H.; Gecz, J.
	2001	A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda	Tiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
	1997	The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies	D'Adamo, P.; Fassone, L.; Gedeon, A.; Janssen, E.; Bione, S.; Bolhuis, P.; Barth, P.; Wilson, M.; Haan, E.; Orstavik, H.; Patton, M.; Green, A.; Zammarchi, E.; Donati, M.; Toniolo, D.
	2001	Glycosidase active site mutations in human a-L-iduronidase	Brooks, D.; Fabrega, S.; Hein, L.; Parkinson, E.; Durand, P.; Yogalingam, G.; Matte, U.; Giugliani, R.; Dasvarma, A.; Eslahpazire, J.; Henrissat, B.; Mornon, J.; Hopwood, J.; Lehn, P.
	1995	In vivo delivery of human α-L-iduronidase in mice implanted with neo-organs	Salvetti, A.; Moullier, P.; Cornet, V.; Brooks, D.; Hopwood, J.; Danos, O.; Heard, J.M.
	2001	A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant	Bhattacharyya, R.; Gliddon, B.; Beccari, T.; Hopwood, J.; Stanley, P.
	2003	Mouse sulphamidase gene: characterization of the promoter region of the gene and expression in mouse tissues	Costanzi, E.; Beccari, T.; Aisa, M.; Tiribuzi, R.; Hopwood, J.; Orlacchio, A.
	2002	α-Mannosidosis in the guinea pig: cloning of the lysosomal α-mannosidase cDNA and identification of a missense mutation causing α-mannosidosis	Berg, T.; 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.