Adelaide Research & Scholarship: Search

Search

Search:
for

Current filters:

Start a new search

Add filters:

Results/Page | Sort items by In order Authors/record

Results 1-10 of 11 (Search time: 0.003 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	1997	Mutations among Italian mucopolysaccharidosis Type I patients	Gatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; Hopwood, J.
	2001	Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications	Yogalingam, G.; Hopwood, J.
	1995	The molecular genetics of mucopolysaccharidosis type I : Diagnostic, clinical and biological implications	Scott, H.; Bunge, S.; Gal, A.; Clarke, L.; Morris, C.; Hopwood, J.
	2001	Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase	Litjens, T.; Hopwood, J.
	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	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.
	2003	Human wild-type SEDL protein functionally complements yeast Trs20p but some naturally occurring SEDL mutants do not	Gecz, J.; Shaw, M.; Bellon, J.; de Barros Lopes, M.
	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.
	1998	Two mutations within a feline mucopolysaccharidosis type VI colony cause three different clinical phenotypes	Crawley, A.; Yogalingam, G.; Muller, V.; Hopwood, J.
	1998	Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies	Bunge, S.; Clements, P.; Byers, S.; Kleijer, W.; Brooks, D.; Hopwood, J.