Adelaide Research & Scholarship: Search

Search

Results 1-10 of 13 (Search time: 0.002 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2004	TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutation	Christophe-Hobertus, C.; Kooy, F.; Gecz, J.; Abramowicz, M.; Holinski-Feder, E.; Schwartz, C.; Christophe, D.
	2004	De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency	McFarland, R.; Kirby, D.; Fowler, K.; Ohtake, A.; Ryan, M.; Amor, D.; Fletcher, J.; Dixon, J.; Collins, F.; Turnbull, D.; Taylor, R.; Thorburn, A.
	2004	The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain	Gecz, J.
	2004	Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III A	Muschol, N.; Storch, S.; Balhausen, D.; Beesley, C.; Westermann, J.; Gal, A.; Ullrich, K.; Hopwood, J.; Winchester, B.; Braulke, T.
	2004	Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons	Colombo, E.; Galli, R.; Cossu, G.; Gecz, J.; Broccoli, V.
	2004	Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II	Hermans, M.; van Leenen, D.; Kroos, M.; Beesley, C.; Van der Ploeg, A.; Sakuraba, H.; Wevers, R.; Kleijer, W.; Mikelakakis, H.; Kirk, E.; Fletcher, J.; Bosshard, N.; Basel-Vanagaite, L.; Besley, G.; Reuser, A.
	2004	Identification and molecular characterization of α-L-iduronidase mutations present in mucopolysaccharidosis type I patients undergoing enzyme replacement therapy	Yogalingam, G.; Guo, X.; Muller, V.; Brooks, D.; Clements, P.; Kakkis, E.; Hopwood, J.
	2004	Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families	Marini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
	2004	Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.	Partington, M.; Turner, G.; Boyle, J.; Gecz, J.
	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.