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Results 11-20 of 49 (Search time: 0.006 seconds).
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PreviewIssue DateTitleAuthor(s)
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
1998Molecular heterogeneity in mucopolysaccharidosis IVA in Australia and Northern Ireland: nine novel mutations including T312S, a common allele that confers a mild phenotypeYamada, N.; Fukuda, S.; Tomatsu, S.; Muller, V.; Hopwood, J.; Nelson, J.; Kato, Z.; Yamagishi, A.; Sukegawa, K.; Kondo, M.; Orii, T.
1997Mutations among Italian mucopolysaccharidosis Type I patientsGatti, R.; Di Natale, P.; Villani, G.; Filocamo, M.; Muller, V.; Guo, X.H.; Nelson, P.; Scott, H.; Hopwood, J.
1997Activating mutations in cytokine receptors: implications for receptor function and role in disease.Gonda, T.; D'Andrea, R.
1995Lipopolysaccharide with an altered O-antigen produced in Escherichia coli K-12 harbouring mutated, cloned Shigella flexneri rfb genesMorona, R.; Macpherson, D.; Van Den Bosch, L.; Carlin, N.; Manning, P.
1997Identification of 16 Sulfamidase Gene Mutations Including the Common R74C in Patients With Mucopolysaccharidosis Type IIIa (Sanfilippo A)Bunge, S.; Ince, H.; Steglich, C.; Kleijer, W.; Beck, M.; Zaremba, J.; van Diggelen, O.; Weber, B.; Hopwood, J.; Gal, A.
1994Exclusion of growth hormone (GH)-releasing hormone gene mutations in familial isolated GH deficiency by linkage and single strand conformation analysisPĂ©rez Jurado, L.; Phillips, J.; Francke, U.
1999Penicillin tolerance in Streptococcus pneumoniae, autolysis and the Psa ATP-binding cassette (ABC) manganese permeaseClaverys, J.P.; Granadel, C.; Berry, A.M.; Paton, J.C.
1998Analysis of a Drosophila cyclin E hypomorphic mutation suggests a novel role for Cyclin E in cell proliferation control during eye imaginal disc development.Secombe, J.; Pispa, J.; Saint, R.; Richardson, H.
1998Casein kinase 2 phosphorylation of recombinant rat osteopontin enhances adhesion of osteoclasts but not osteoblastsKatayama, Y.; House, C.; Udagawa, N.; Kazama, J.; McFarland, R.; Martin, T.; Findlay, D.