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Results 11-20 of 20 (Search time: 0.002 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.
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.
2007Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPHKousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H.; Remm, M.; Turner, G.; Boyle, J.; van Bokhoven, H.; de Brouwer, A.; Van Esch, H.; Froyen, G.; Ropers, H.; Chelly, J.; Moraine, C.; Gecz, J.; Kurg, A.; Patsalis, P.
2004Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locusDudding, T.; Friend, K.; Schofield, P.; Lee, S.; Wilkinson, I.; Richards, R.
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.
2007Impaired fat oxidation after a single high-fat meal in insulin-sensitive nondiabetic individuals with a family history of type 2 diabetesHeilbronn, L.; Gregersen, S.; Shirkhedkar, D.; Hu, D.; Campbell, L.
2005Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancerWorthley, D.; Walsh, M.; Barker, M.; Ruszkiewicz, A.; Bennett, G.; Phillips, K.; Suthers, G.
2003Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsyMcLellan, A.; Phillips, H.; Rittey, C.; Kirkpatrick, M.; Mulley, J.; Goudie, D.; Stephenson, J.; Tolmie, J.; Scheffer, I.; Berkovic, S.; Zuberi, S.