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Results 91-100 of 105 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2006Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patientCrawford, J.; Lower, K.; Hennekam, R.; Van Esch, H.; Megarbane, A.; Lynch, S.; Turner, G.; Gecz, J.
2006Effects of transforming growth factor-beta and formula feeding on systemic immune responses to dietary beta-lactoglobulin in allergy-prone ratsPenttila, I.
2006Intra-articular enzyme administration for joint disease in feline mucopolysaccharidosis VI: Enzyme dose and intervalAuclair, D.; Hein, L.; Hopwood, J.; Byers, S.
2006Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndromevon werkhoven, M.; Thorburn, D.; Gedeon, A.; Pitt, J.
2006Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIADerrick Roberts, A.; Thomas, B.; Wilkinson, A.; Fletcher, J.; Byers, S.
2006Immunochemistry of lysosomal storage disordersParkinson-Lawrence, E.; Fuller, M.; Hopwood, J.; Meikle, P.; Brooks, D.
2006Gene therapy for cystic fibrosis airway disease - Is clinical success imminent?Anson, D.; Smith, G.; Parsons, D.
2006Expression of bone morphogenic proteins and receptors at the injured growth plate cartilage in young ratsNgo, T.; Scherer, M.; Zhou, F.; Foster, B.; Xian, C.
2006delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha 4 beta 2 delta GABA(A) receptorsFeng, H.; Kang, J.; Song, L.; Dibbens, L.; Mulley, J.; Macdonald, R.
2006Detection of mucopolysaccharidosis type II by measurement of iduronate-2-sulfatase in dried blood spots and plasma samplesDean, C.; Bockmann, M.; Hopwood, J.; Brooks, D.; Meikle, P.