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Results 1-10 of 17 (Search time: 0.003 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.
1999Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tardaGedeon, A.; Colley, A.; Jamieson, R.; Thompson, E.; Rogers, J.; Sillence, D.; Tiller, G.; Mulley, J.; Gecz, J.
2000A de novo mutation in sporadic nocturnal frontal lobe epilepsyPhillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.
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.
2003X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3Gedeon, A.; Nelson, J.; Gecz, J.; Mulley, J.
2007Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell linesMcRae, A.; Matigian, N.; Vadlamudi, L.; Mulley, J.; Mowry, B.; Martin, N.; Berkovic, S.; Hayward, N.; Visscher, P.
2007Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutationsScheffer, I.; Harkin, L.; Grinton, B.; Dibbens, L.; Turner, S.; Zielinski, M.; Xu, R.; Jackson, G.; Adams, J.; Connellan, M.; Petrou, S.; Wellard, R.; Briellmann, R.; Wallace, R.; Mulley, J.; Berkovic, S.
2007A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channelXu, R.; Thomas, E.; Jenkins, M.; Gazina, E.; Chiu, C.; Heron, S.; Mulley, J.; Scheffer, I.; Berkovic, S.; Petrou, S.
2005Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy ?Tan, N.; Heron, S.; Scheffer, I.; Berkovic, S.; Mulley, J.

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