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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.
	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	SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum	Herlenius, E.; Heron, S.; Grinton, B.; Keay, D.; Scheffer, I.; Mulley, J.; Berkovic, S.
	2004	Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus	Dudding, T.; Friend, K.; Schofield, P.; Lee, S.; Wilkinson, I.; Richards, R.
	2002	X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX	Scheffer, I.; Wallace, R.; Phillips, F.; Hewson, P.; Reardon, K.; Parasivam, G.; Stromme, P.; Berkovic, S.; Gecz, J.; Mulley, J.
	2005	Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation	Walenkamp, M.; Karperien, M.; Pereira, A.; Hilhorst-Hofstee, Y.; van Doorn, J.; Chen, J.; Mohan, S.; Denley, A.; Forbes, B.; van Duyvenvoorde, H.; van Thiel, S.; Sluimers, C.; Bax, J.; de Laat, J.; Breuning, M.; Romijn, J.; Wit, J.
	2005	Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer	Worthley, D.; Walsh, M.; Barker, M.; Ruszkiewicz, A.; Bennett, G.; Phillips, K.; Suthers, G.
	2003	Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy	McLellan, A.; Phillips, H.; Rittey, C.; Kirkpatrick, M.; Mulley, J.; Goudie, D.; Stephenson, J.; Tolmie, J.; Scheffer, I.; Berkovic, S.; Zuberi, S.