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Results 1-10 of 22 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2004TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationChristophe-Hobertus, C.; Kooy, F.; Gecz, J.; Abramowicz, M.; Holinski-Feder, E.; Schwartz, C.; Christophe, D.
2004De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyMcFarland, R.; Kirby, D.; Fowler, K.; Ohtake, A.; Ryan, M.; Amor, D.; Fletcher, J.; Dixon, J.; Collins, F.; Turnbull, D.; Taylor, R.; Thorburn, A.
2004Insuflon versus subcutaneous injection for cytokine administration in children and adolescents: a randomised crossover studyDyer, S.; Collins, C.; Baghurst, P.; Saxon, B.; Meachan, B.
2004A combined 13CO2/H2 breath test can be used to assess starch digestion and fermentation in humansSymonds, E.; Kritas, S.; Omari, T.; Butler, R.
2004Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)Harmatz, P.; Whitley, C.; Waber, L.; Pais, R.; Steiner, R.; Plecko, B.; Kaplan, P.; Simon, J.; Butensky, E.; Hopwood, J.
2004Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex familiesMarini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
2004Gastrointestinal: Positron emission tomography scans and colonic polypsTan, K.; Bartholomeusz, F.; Chatterton, B.; Bignold, L.; Jersmann, H.
20041024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome familyLower, K.; Solders, G.; Bondeson, M.; Nelson, J.; Brun, A.; Crawford, J.; Malm, G.; Borjeson, M.; Turner, G.; Partington, M.; Gecz, J.
2004Cord-blood transplants from unrelated donors in patients with Hurler's SyndromeStaba, S.; Escolar, M.; Poe, M.; Kim, Y.; Martin, P.; Szabolcs, P.; Allison-Thacker, J.; Wood, S.; Wenger, D.; Rubenstein, P.; Hopwood, J.; Krivit, W.; Kurtzberg, J.
2004Experiences in providing a screening service for colorectal cancer from a pathology laboratoryEdwards, J.; Williams, J.; Thomas, D.