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Results 1-10 of 24 (Search time: 0.005 seconds).
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PreviewIssue DateTitleAuthor(s)
2002A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotypeCundy, T.; Hegde, M.; Naot, D.; Chong, B.; King, A.; Wallace, R.; Mulley, J.; Love, D.; Seidel, J.; Fawkner, M.; Banovic, T.; Callon, K.; Grey, A.; Reid, I.; Middleton-Hardie, C.; Cornish, J.
2002Sodium-channel defects in benign familial neonatal-infantile seizuresHeron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
2005A community-based intervention to reduce antibiotic use for upper respiratory tract infections in regional South AustraliaDollman, W.; LeBlanc, V.; Stevens, L.; O'Connor, P.; Turnidge, J.
2007Low CD4 T cell immunity to pneumolysin is associated with nasopharyngeal carriage of pneumococci in childrenZhang, Q.; Bagrade, L.; Bernatoniene, J.; Clarke, E.; Paton, J.; Mitchell, T.; Nunez, D.; Finn, A.
2013Rare variants in single-minded 1 (SIM1) are associated with severe obesityRamachandrappa, S.; Raimondo, A.; Cali, A.; Keogh, J.; Henning, E.; Saeed, S.; Thompson, A.; Garg, S.; Bochukova, E.; Brage, S.; Trowse, V.; Wheeler, E.; Sullivan, A.; Dattani, M.; Clayton, P.; Datta, V.; Bruning, J.; Wareham, N.; O'Rahilly, S.; Peet, D.; et al.
2004Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathyBerkovic, S.; Heron, S.; Giordano, L.; Marini, C.; Guerrini, R.; Kaplan, R.; Gambardella, A.; Steinlein, O.; Grinton, B.; Dean, J.; Bordo, L.; Hodgson, B.; Yamamoto, T.; Mulley, J.; Zara, F.; Scheffer, I.
2013Loss-of-function mutations in SIM1 contribute to obesity and Prader-Willi-like featuresBonnefond, A.; Raimondo, A.; Stutzmann, F.; Ghoussaini, M.; Ramachandrappa, S.; Bersten, D.; Durand, E.; Vatin, V.; Balkau, B.; Lantieri, O.; Raverdy, V.; Pattou, F.; Van Hul, W.; Van Gaal, L.; Peet, D.; Weill, J.; Miller, J.; Horber, F.; Goldstone, A.; Driscoll, D.; et al.
2003X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3Gedeon, A.; Nelson, J.; Gecz, J.; Mulley, J.
2014SOX3 deletion in mouse and human Is associated with persistence of the craniopharyngeal canalAlatzoglou, K.; Azriyanti, A.; Rogers, N.; Ryan, F.; Curry, N.; Noakes, C.; Bignell, P.; Hall, G.; Littooij, A.; Saunders, D.; Thomas, P.; Stewart, H.; Dattani, M.
2011MLVA and phage typing as complementary tools in the epidemiological investigation of Salmonella enterica serovar typhimurium clustersRoss, I.; Davos, D.; Mwanri, L.; Raupach, J.; Heuzenroeder, M.