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Results 31-40 of 127 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2004The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brainGecz, J.
2004A combined 13CO2/H2 breath test can be used to assess starch digestion and fermentation in humansSymonds, E.; Kritas, S.; Omari, T.; Butler, R.
2004Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Harmatz, P.; Whitley, C.; Waber, L.; Pais, R.; Steiner, R.; Plecko, B.; Kaplan, P.; Simon, J.; Butensky, E.; Hopwood, J.
2004Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomesLobb, E.; Butow, P.; Barratt, A.; Meiser, B.; Gaff, C.; Young, M.; Haan, E.; Suthers, G.; Gattas, M.; Tucker, K.
2004Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapyKarageorgos, L.; Harmatz, P.; Simon, J.; Pollard, A.; Clements, P.; Brooks, D.; Hopwood, J.
2004Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified in patients with mucopolysaccharidosis type III AMuschol, N.; Storch, S.; Balhausen, D.; Beesley, C.; Westermann, J.; Gal, A.; Ullrich, K.; Hopwood, J.; Winchester, B.; Braulke, T.
2004Mouse 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 neuronsColombo, E.; Galli, R.; Cossu, G.; Gecz, J.; Broccoli, V.
2004Gastric duplication cyst causing gastric outlet obstructionMaster, V.; Woods, R.; Morris, L.; Freeman, J.
2004Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasiaShaw, M.; Gecz, J.; McDonough, B.; Hodess, A.; Harter, D.
2004Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIHermans, 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.