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Results 11-20 of 37 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2002Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutationTurner, G.; Partington, M.; Kerr, B.; Mangelsdorf, M.; Gecz, J.
2005Threshold 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.
2007Molecular consequences of dominant Bethlem myopathy collagen VI mutationsBaker, 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.
2006A pilot study of the safety implications of Australian nurses' sleep and work hoursDorrian, J.; Lamond, N.; van den Heuvel, C.; Pincombe, J.; Rogers, A.; Drew, D.
2005Erythromycin dose of 70 mg accelerates gastric emptying as effectively as 200 mg in the critically illRitz, M.; Chapman, M.; Fraser, R.; Finnis, M.; Butler, R.; Cmielewski, P.; Davidson, G.; Rea, D.
2007Increased intracellular T helper 1 proinflammatory cytokine production in peripheral blood, bronchoalveolar lavage and intraepithelial T cells of COPD subjectsHodge, G.; Nairn, J.; Holmes, M.; Reynolds, P.; Hodge, S.
2007An 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 correlationUpadyaya, 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.
2001A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaTiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
2002National study of adverse reactions after vaccination with bacille Calmette-GuérinTurnbull, F.; McIntyre, P.; Achat, H.; Wang, H.; Stapledon, R.; Gold, M.; Burgess, M.
2004Nasopharyngeal pH monitoring in chronic sinusitis patients using a novel four channel probeWong, I.; Omari, T.; Myers, J.; Rees, G.; Nair, S.; Jamieson, G.; Wormald, P.