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Results 11-20 of 37 (Search time: 0.003 seconds).
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Issue Date
Title
Author(s)
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2005
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Swiedler, S.
;
Beck, M.
;
Bajbouj, M.
;
Giugliani, R.
;
Schwartz, I.
;
Harmatz, P.
;
Wraith, J.
;
Roberts, J.
;
Ketteridge, D.
;
Hopwood, J.
;
Guffon, N.
;
Miranda, C.
;
Teles, E.
;
Berger, K.
;
Piscia-Nichols, C.
2007
Molecular consequences of dominant Bethlem myopathy collagen VI mutations
Baker, N.
;
Morgelin, M.
;
Pace, R.
;
Peat, R.
;
Adams, N.
;
Gardner, R.
;
Rowland, L.
;
Miller, G.
;
De Jonghe, P.
;
Ceulemans, B.
;
Hannibal, M.
;
Edwards, M.
;
Thompson, E.
;
Jacobson, R.
;
Quinlivan, R.
;
Aftimos, S.
;
Kornberg, A.
;
North, K.
;
Bateman, J.
;
Lamande, S.
2006
A pilot study of the safety implications of Australian nurses' sleep and work hours
Dorrian, J.
;
Lamond, N.
;
van den Heuvel, C.
;
Pincombe, J.
;
Rogers, A.
;
Drew, D.
2005
Erythromycin dose of 70 mg accelerates gastric emptying as effectively as 200 mg in the critically ill
Ritz, M.
;
Chapman, M.
;
Fraser, R.
;
Finnis, M.
;
Butler, R.
;
Cmielewski, P.
;
Davidson, G.
;
Rea, D.
2007
Increased intracellular T helper 1 proinflammatory cytokine production in peripheral blood, bronchoalveolar lavage and intraepithelial T cells of COPD subjects
Hodge, G.
;
Nairn, J.
;
Holmes, M.
;
Reynolds, P.
;
Hodge, S.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
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.
2002
National study of adverse reactions after vaccination with bacille Calmette-Guérin
Turnbull, F.
;
McIntyre, P.
;
Achat, H.
;
Wang, H.
;
Stapledon, R.
;
Gold, M.
;
Burgess, M.
2004
Nasopharyngeal pH monitoring in chronic sinusitis patients using a novel four channel probe
Wong, I.
;
Omari, T.
;
Myers, J.
;
Rees, G.
;
Nair, S.
;
Jamieson, G.
;
Wormald, P.
Discover
Author
4
Davidson, G.
4
Haan, E.
3
Butler, R.
3
Kerr, B.
2
Chapman, M.
2
Chuzhanova, N.
2
Dorrian, J.
2
Fraser, R.
2
Gecz, J.
2
Gold, M.
.
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Subject
34
Female
19
Adolescent
18
Aged
15
Child
9
Child, Preschool
6
Pedigree
5
Australia
4
Aged, 80 and over
4
Infant
4
Mutation
.
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Date issued
6
2009
1
2008
7
2007
2
2006
7
2005
3
2004
3
2003
5
2002
1
2001
2
2000
.
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