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Results 31-40 of 51 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2003Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardationBurdon, K.; McKay, J.; Sale, M.; Russell-Eggitt, I.; Mackey, D.; Wirth, G.; Elder, J.; Nicoll, A.; Clarke, M.; FitzGerald, L.; Stankovich, J.; Shaw, M.; Sharma, S.; Gajovic, S.; Gruss, P.; Ross, S.; Thomas, P.; Voss, A.; Thomas, T.; Gecz, J.; et al.
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.
2007DMRT gene cluster analysis in the platypus: New insights into genomic organization and regulatory regionsEl-Mogharbel, N.; Wakefield, M.; Deakin, J.; Tsend-Ayush, E.; Grutzner, F.; Alsop, A.; Ezaz, T.; Graves, J.
1997AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal locationStapleton, D.; Woollatt, E.; Mitchelhill, K.; Nicholl, J.; Fernandez, C.; Michell, B.; Witters, L.; Power, D.; Sutherland, G.; Kemp, B.
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.
1995A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsySteinlein, O.; Mulley, J.; Propping, P.; Wallace, R.; Phillips, H.; Sutherland, G.; Scheffer, I.; Berkovic, S.
2008The Contribution of Different Androgen Receptor Domains to Receptor Dimerization and SignalingCentenera, M.; Harris, J.; Tilley, W.; Butler, L.
2009A Novel Androgen Receptor Amino Terminal Region Reveals Two Classes of Amino/Carboxyl Interaction-Deficient Variants with Divergent Capacity to Activate Responsive Sites in ChromatinNeed, E.; Scher, H.; Peters, A.; Moore, N.; Cheong, A.; Ryan, C.; Wittert, G.; Marshall, V.; Tilley, W.; Buchanan, G.
2004LGI1 mutations in temporal lobe epilepsiesBerkovic, S.; Izzillo, P.; McMahon, J.; Harkin, L.; McIntosh, A.; Phillips, H.; Briellmann, R.; Wallace, R.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Scheffer, I.; Mulley, J.