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Results 11-20 of 20 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
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.
2004GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsiesDibbens, L.; Feng, H.; Richards, M.; Harkin, L.; Hodgson, B.; Scott, D.; Jenkins, M.; Petrou, S.; Sutherland, G.; Scheffer, I.; Berkovic, S.; Mcdonald, R.; Mulley, J.
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.
2004Folic acid improves endothelial function in children and adolescents with type 1 diabetesPena Vargas, A.; Wiltshire, E.; Gent, R.; Hirte, C.; Couper, J.
2004Paradoxical impact of body positioning on gastroesophageal reflux and gastric emptying in the premature neonateOmari, T.; Rommel, N.; Staunton, E.; Lontis, R.; Goodchild, L.; Haslam, R.; Dent, J.; Davidson, G.
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.
2004Mutations of the mitochondrial ND1 gene as a cause of MELASKirby, D.; McFarland, R.; Ohtake, A.; Dunning, C.; Ryan, M.; Wilson, C.; Ketteridge, D.; Turnbull, D.; Thorburn, D.; Taylor, R.
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.
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.