Adelaide Research & Scholarship: Search

Search

Results 1-10 of 14 (Search time: 0.002 seconds).

previous
1
2
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2002	A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype	Cundy, 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.
	2002	Sodium-channel defects in benign familial neonatal-infantile seizures	Heron, 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.
	2000	A de novo mutation in sporadic nocturnal frontal lobe epilepsy	Phillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.
	2004	Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy	Berkovic, 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.
	2003	X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3	Gedeon, A.; Nelson, J.; Gecz, J.; Mulley, J.
	2007	Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations	Scheffer, 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.
	2002	Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus	Harkin, L.; Bowser, D.; Dibbens, L.; Singh, R.; Phillips, F.; Wallace, R.; Richards, M.; Williams, D.; Mulley, J.; Berkovic, S.; Scheffer, I.; Petrou, S.
	2001	CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy	Phillips, H.; Favre, I.; Kirkpatrick, M.; Zuberi, S.; Goudie, D.; Heron, S.; Scheffer, I.; Sutherland, G.; Berkovic, S.; Bertrand, D.; Mulley, J.
	2001	Neuronal sodium-channel a1-subunit mutations in generalized epilepsy with febrile seizures plus	Wallace, 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.
	2002	Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome	Lower, 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.