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PreviewIssue DateTitleAuthor(s)
2004A combined 13CO2/H2 breath test can be used to assess starch digestion and fermentation in humansSymonds, E.; Kritas, S.; Omari, T.; Butler, R.
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.
2004Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.Partington, M.; Turner, G.; Boyle, J.; Gecz, J.
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.
2004Nasopharyngeal pH monitoring in chronic sinusitis patients using a novel four channel probeWong, I.; Omari, T.; Myers, J.; Rees, G.; Nair, S.; Jamieson, G.; Wormald, P.
2004Phenotypic variability: Clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemiaMorwood, K.; Bourne, H.; Philpot, R.; Gold, M.; Gillis, D.; Benson, E.
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.
2004Immunoquantification of a-galactosidase: Evaluation for the diagnosis of Fabry DiseaseFuller, M.; Lovejoy, M.; Brooks, D.; Harkin, M.; Hopwood, J.; Meikle, P.
2004Pancreatic β-cell function and immune responses to insulin after administration of intranasal insulin to humans at risk for type 1 diabetesHarrison, L.; Honeyman, B.; Steele, C.; Stone, N.; Sarugeri, E.; Bonifacio, E.; Couper, J.; Coleman, P.