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Results 61-70 of 86 (Search time: 0.004 seconds).
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PreviewIssue DateTitleAuthor(s)
2007eneralized epilepsy with febrile seizures plus-associated sodium channel β1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel functionXu, R.; Thomas, E.; Gazina, E.; Richards, K.; Quick, M.; Wallace, R.; Harkin, L.; Heron, S.; Berkovic, S.; Scheffer, I.; Mulley, J.; Petrou, S.
2001Fragile and unstable chromosomes in cancer: causes and consequencesRichards, R.
2009ABC50 promotes translation initiation in mammalian cellsWang, X.; Paytubi, S.; Lam, Y.; Izquierdo, L.; Hunter, M.; Jan, E.; Hundal, H.; Proud, C.
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.
2008Two novel JAK2 exon 12 mutations in JAK2V617F-negative polycythaemia vera patientsButcher, C.; Hahn, U.; To, L.; Gecz, J.; Wilkins, E.; Scott, H.; Bardy, P.; D'Andrea, R.
2008Re-evaluating the roles of proposed modulators of mammalian target of rapamycin complex 1 (mTORC1) signalingWang, X.; Fonseca, B.; Tang, H.; Liu, R.; Elia, A.; Clemens, M.; Bommer, U.; Proud, C.
2012The insulin-like growth factor mutation database (IGFmdb)Rajapaksha, K.; Alvino, C.; McCarthy, P.; Forbes, B.
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.
2007Protein and gene expression analysis of Phf6, the gene mutated in the Borjeson-Forssman-Lehmann Syndrome of intellectual disability and obesityVoss, A.; Gamble, R.; Collin, C.; Shoubridge, C.; Corbett, M.; Gecz, J.; Thomas, T.