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Preview	Issue Date	Title	Author(s)
	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.
	2007	Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation	Tarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
	2000	A de novo mutation in sporadic nocturnal frontal lobe epilepsy	Phillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.
	2004	Glycogen branching enzyme (GBE1) mutation causing equine glycogen storage disease IV	Ward, T.; Valberg, S.; Adelson, D.; Abbey, C.; Binns, M.; Mickelson, J.
	2001	Analysis of lymphoedema-distichiasis families for FOXC2 mutations reveals small insertions and deletions throughout the gene	Bell, R.; Brice, G.; Child, A.; Murday, V.; Mansour, S.; Sandy, C.; Collin, J.; Brady, A.; Callen, D.; Burnand, K.; Mortimer, P.; Jeffery, S.
	1999	Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM	Friend, K.; Crimmins, D.; Phan, T.; Sue, C.; Colley, A.; Fung, V.; Morris, J.; Sutherland, G.; Richards, R.
	1997	Ancient missense mutations in a new member of the RoRet gene family are likely to cause Familial Mediterranean Fever	Aksentijevich, I.; Centola, M.; Deng, Z.; Sood, R.; Balow, J.; Wood, G.; Zaks, N.; Mansfield, E.; Chen, X.; Eisenberg, S.; Vedula, A.; Shafran, N.; Raben, N.; Pras, E.; Pras, M.; Kastner, D.; Blake, T.; Baxevanis, A.; Robbins, C.; Krizman, D.; et al.
	2006	De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study	Berkovic, S.; Harkin, L.; McMahon, J.; Pelekanos, J.; Zuberi, S.; Wirrell, E.; Gill, D.; Iona, X.; Mulley, J.; Scheffer, I.
	2001	The molecular basis of X-linked spondyloepiphyseal dysplasia tarda	Gedeon, A.; Tiller, G.; Le Merrer, M.; Heuertz, S.; Tranebjaerg, L.; Chitayat, D.; Robertson, S.; Glass, I.; Savarirayan, R.; Cole, W.; Rimoin, D.; Kousseff, B.; Ohashi, H.; Zabel, B.; Munnich, A.; Gecz, J.; 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.