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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.
2002Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [g2(R43Q)] found in human epilepsyBowser, D.; Wagner, D.; Czajkowski, C.; Cromer, B.; Parker, M.; Wallace, R.; Harkin, L.; Mulley, J.; Marini, C.; Berkovic, S.; Williams, D.; Jones, M.; Petrou, S.
2002Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plusHarkin, L.; Bowser, D.; Dibbens, L.; Singh, R.; Phillips, F.; Wallace, R.; Richards, M.; Williams, D.; Mulley, J.; Berkovic, S.; Scheffer, I.; Petrou, S.
2002Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeLower, K.; Turner, G.; Kerr, B.; Mathews, K.; Shaw, M.; Gedeon, A.; Schelley, S.; Hoyme, H.; White, S.; Delatycki, M.; Lampe, A.; Clayton-Smith, J.; Stewart, H.; van Ravenswaay, C.; de Vries, B.; Cox, B.; Grompe, M.; Ross, S.; Thomas, P.; Mulley, J.; et al.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.
2002X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARXScheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
2002How mutations in the nAChRs can cause ADNFLE epilepsyBertrand, D.; Picard, F.; Le Hellard, S.; Weiland, S.; Favre, I.; Phillips, H.; Bertrand, S.; Berkovic, S.; Malafosse, A.; Mulley, J.