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Results 1-10 of 18 (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.
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.
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.
2004Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationFreude, K.; Hoffmann, K.; Jensen, L.; Delatycki, M.; des Portes, V.; Moser, B.; Hamel, B.; van Bokhoven, H.; Moraine, C.; Fryns, J.; Chelly, J.; Gecz, J.; Lenzner, S.; Kalscheuer, V.; Ropers, H.
2004Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationTarpey, P.; Parnau, J.; Blow, M.; Woffendin, H.; Bignell, G.; Cox, C.; Cox, J.; Davies, H.; Edkins, S.; Holden, S.; Korny, A.; Mallya, U.; Moon, J.; O'Meara, S.; Parker, A.; Stephens, P.; Stevens, C.; Teague, J.; Donnelly, A.; Mangelsdorf, M.; et al.