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Results 21-30 of 36 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2001CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyPhillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; Mulley, J.
2001Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plusWallace, R.; Scheffer, I.; Barnett, S.; Richards, M.; Dibbens, L.; Desai, R.; Lerman-Sagie, T.; Lev, D.; Mazarib, A.; Brand, N.; Ben-Zeev, B.; Goikhman, I.; Singh, R.; Kremmidiotis, G.; Gardner, A.; Sutherland, G.; George Jr., A.; Mulley, J.; Berkovic, S.
2012Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trialFalchook, G.; Long, G.; Kurzrock, R.; Kim, K.; Arkenau, T.; Brown, M.; Hamid, O.; Infante, J.; Millward, M.; Pavlick, A.; O'Day, S.; Blackman, S.; Curtis, C.; Lebowitz, P.; Ma, B.; Ouellet, D.; Kefford, R.
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.
2008Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutationTurner, G.; Boyle, J.; Partington, M.; Kerr, B.; Raymond, F.; Gecz, J.
2013Interplay between manganese and iron in pneumococcal pathogenesis: Role of the orphan response regulator ritROng, C.; Potter, A.; Trappetti, C.; Walker, M.; Jennings, M.; Paton, J.; McEwan, A.; Payne, S.M.
2007Contributions of pneumolysin, pneumococcal surface protein A (PspA), and PspC to pathogenicity of Streptococcus pneumoniae D39 in a mouse modelOgunniyi, A.; Le Messurier, K.; Graham, R.; Watt, J.; Briles, D.; Stroeher, U.; Paton, J.
2006Severe myoclonic epilepsy of infancy (Dravet syndrome): Recognition and diagnosis in adultsJansen, F.; Sadleir, L.; Harkin, L.; Vadlamudi, L.; McMahon, J.; Mulley, J.; Scheffer, I.; Berkovic, S.