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Results 31-40 of 52 (Search time: 0.007 seconds).
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PreviewIssue DateTitleAuthor(s)
1998Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 geneGibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E.
2008Gender specific effects on the actin-remodelling protein Flightless I and TGF-beta 1 contribute to impaired wound healing in aged skinAdams, D.; Studwick, X.; Kopeki, Z.; Hooper-Jones, J.; Matthaei, K.; Campbell, H.; Powell, B.; Cowin, A.
2005Enzyme replacement therapy for Gaucher disease in AustraliaGoldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
2006Etanercept decreases tumor necrosis factor-alpha activity in chronic wound fluidCowin, A.; Hatzirodos, N.; Rigden, J.; Fitridge, R.; Belford, D.
2003Pex13 inactivation in the mouse disrupts peroxisome biogenesis and leads to a Zellweger syndrome phenotypeMaxwell, M.; Bjorkman, J.; Nguyen, T.; Sharp, P.; Finnie, J.; Paterson, C.; Tonks, I.; Paton, B.; Kay, G.; Crane, D.
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.
1998Mild feline mucopolysaccharidosis type VI. Identification of an N-acetylgalactosamine-4-sulfatase mutation causing instability and increased specific activityYogalingam, G.; Hopwood, J.; Crawley, A.; Anson, D.
1996Oxidation of pristanic acid in fibroblasts and its application to the diagnosis of peroxisomal beta-oxidation defectsPaton, B.; Sharp, P.; Crane, D.; Poulos, A.
2016Regulation of fibrillins and modulators of TGFβ in fetal bovine and human ovariesBastian, N.; Bayne, R.; Hummitzsch, K.; Hatzirodos, N.; Bonner, W.; Hartanti, M.; Irving-Rodgers, H.; Anderson, R.; Rodgers, R.
1998Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studiesBunge, S.; Clements, P.; Byers, S.; Kleijer, W.; Brooks, D.; Hopwood, J.