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PreviewIssue DateTitleAuthor(s)
2008Current use of Australian snake antivenoms and frequency of immediate-type hypersensitivity reactions and anaphylaxisIsbister, G.; Brown, S.; MacDonald, E.; White, J.; Currie, B.
2008Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental RetardationMolinari, F.; Foulquier, F.; Tarpey, P.; Morelle, W.; Boissel, S.; Teague, J.; Edkins, S.; Futreal, P.; Stratton, M.; Turner, G.; Matthijs, G.; Gecz, J.; Munnich, A.; Colleaux, L.
2008SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndromeGilfillan, G.; Selmer, K.; Roxrud, I.; Smith, R.; Kyllerman, M.; Eiklid, K.; Kroken, M.; Mattingsdal, M.; Egeland, T.; Stenmark, H.; Sjoholm, H.; Server, A.; Samuelsson, L.; Christianson, A.; Tarpey, P.; Whibley, A.; Stratton, M.; Futreal, P.; Teague, J.; Edkins, S.; et al.
2008Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndromeLaforest, C.; Leibovitch, I.; Selva-Nayagam, D.; Crompton, J.; Haan, E.
2008Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfataseHarmatz, P.; Giugliani, R.; Schwartz, I.; Guffon, N.; Teles, E.; Miranda, C.; Wraith, J.; Beck, M.; Arash, L.; Scarpa, M.; Ketteridge, D.; Hopwood, J.; Plecko, B.; Steiner, R.; Whitley, C.; Kaplan, P.; Yu, Z.; Swiedler, S.; Decker, C.
2008Optimal criteria for detecting bolus passage across the pharyngo-oesophageal segment during the normal swallow using intraluminal impedance recordingSzczesniak, M.; Rommel, N.; Dinning, P.; Fuentealba, S.; Cook, I.; Omari, T.
2008Airway infection in stable lung transplant patients is associated with decreased intracellular T-helper type 1 pro-inflammatory cytokines in bronchoalveolar lavage T-cell subsetsHodge, G.; Hodge, S.; Reynolds, P.; Holmes, M.
2008Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplicationYu, S.; Cox, K.; Friend, K.; Smith, S.; Buchheim, R.; Bain, S.; Leibelt, J.; Thompson, E.; Bratkovic, D.
2008Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel poreHoda, J.; Gu, W.; Friedli, M.; Phillips, H.; Bertrand, S.; Antonarakis, S.; Goudie, D.; Roberts, R.; Scheffer, I.; Marini, C.; Patel, J.; Berkovic, S.; Mulley, J.; Steinlein, O.; Bertrand, D.
2008Carbapenem-resistant isolates of Klebsiella pneumoniae in China and detection of a conjugative plasmid (bla(KPC) plus qnrB4) and a bla(IMP-4) geneMendes, R.; Bell, J.; Turnidge, J.; Yang, Q.; Yu, Y.; Sun, Z.; Jones, R.

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