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Results 211-220 of 246 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2009SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotypeSpurlock, G.; Bennett, E.; Chuzhanova, N.; Thomas, N.; H-Ping, J.; Side, L.; Davies, S.; Haan, E.; Kerr, B.; Huson, S.; Upadhyaya, M.
2004LGI1 mutations in temporal lobe epilepsiesBerkovic, S.; Izzillo, P.; McMahon, J.; Harkin, L.; McIntosh, A.; Phillips, H.; Briellmann, R.; Wallace, R.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Scheffer, I.; Mulley, J.
2000Childhood cancer: A 4-year prospective study of the psychological adjustment of children and parentsSawyer, M.; Antoniou, G.; Toogood, I.; Rice, M.; Baghurst, P.
20114-aminobutyrate aminotrasferase (ABAT): genetic and pharmacological evidence for an involvement in gastro esophageal reflux diseaseJirholt, J.; Asling, B.; Hammond, P.; Davidson, G.; Knutsson, M.; Walentinsson, A.; Jensen, J.; Lehmann, A.; Agreus, L.; Lagerstrom-Fermer, M.; Dubé, M.-P.
1995Expression of cytokine receptors by human cord blood lymphocytes: comparison with adult blood lymphocytesZola, H.; Fusco, M.; Macardle, P.; Flego, L.; Roberton, D.
2010Risk factors for colorectal cancer in patients with multiple serrated polyps: A cross-sectional case series from genetics clinicsSuthers, G.; Aziz, S.A.
2005Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human n-acetylgalactosamine 4-sulfataseHarmatz, P.; Ketteridge, D.; Giugliani, R.; Guffon, N.; Teles, E.; Miranda, C.; Yu, Z.; Swiedler, S.; Hopwood, J.
2008Anaphylaxis following quadrivalent human papillomavirus vaccinationBrotherton, J.; Gold, M.; Kemp, A.; McIntyre, P.; Burgess, M.; Campbell-Lloyd, S.
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.
2004Immunoquantification of a-galactosidase: Evaluation for the diagnosis of Fabry DiseaseFuller, M.; Lovejoy, M.; Brooks, D.; Harkin, M.; Hopwood, J.; Meikle, P.