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Results 31-40 of 127 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2004
The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain
Gecz, J.
2004
A combined 13CO2/H2 breath test can be used to assess starch digestion and fermentation in humans
Symonds, E.
;
Kritas, S.
;
Omari, T.
;
Butler, R.
2004
Enzyme 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.
2004
Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes
Lobb, E.
;
Butow, P.
;
Barratt, A.
;
Meiser, B.
;
Gaff, C.
;
Young, M.
;
Haan, E.
;
Suthers, G.
;
Gattas, M.
;
Tucker, K.
2004
Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy
Karageorgos, L.
;
Harmatz, P.
;
Simon, J.
;
Pollard, A.
;
Clements, P.
;
Brooks, D.
;
Hopwood, 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
Gastric duplication cyst causing gastric outlet obstruction
Master, V.
;
Woods, R.
;
Morris, L.
;
Freeman, J.
2004
Identification of a SEDL gene mutation in an individual with Leber hereditary optic neuropathy and spondyloepiphyseal dysplasia
Shaw, M.
;
Gecz, J.
;
McDonough, B.
;
Hodess, A.
;
Harter, D.
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.
Discover
Author
21
Hopwood, J.
11
Gecz, J.
8
Meikle, P.
7
Gold, M.
7
Roberton, D.
7
Turnidge, J.
6
Fuller, M.
5
Anson, D.
5
Baghurst, P.
5
Brooks, D.
.
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Subject
64
Humans
27
Animals
24
Male
22
Female
14
Mice
13
Molecular Sequence Data
13
Mutation
11
Child
10
Pedigree
9
Adolescent
.
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