Adelaide Research & Scholarship: Search

Search

Results 1-8 of 8 (Search time: 0.006 seconds).

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2000	FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations	Gecz, J.
	1998	X-linked adrenoleukodystrophy: the Australasian experience	Kirk, E.; Fletcher, J.; Sharp, P.; Carey, B.; Poulos, A.
	2004	Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families	Marini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
	2001	A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda	Tiller, G.; Hannig, V.; Dozier, D.; Carrel, L.; Trevarthen, K.; Wilcox, W.; Mundlos, S.; Haines, J.; Gedeon, A.; Gecz, J.
	2003	Nonsyndromic x-linked mental retardation: where are the missing mutations?	Ropers, H.; Hoeltzenbein, M.; Kalscheuer, V.; Yntema, H.; Hamel, B.; Fryns, J.; Chelly, J.; Partington, M.; Gecz, J.; Moraine, C.
	2000	The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects	Gecz, J.
	2004	Phenotypic variability: Clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia	Morwood, K.; Bourne, H.; Philpot, R.; Gold, M.; Gillis, D.; Benson, E.
	2002	Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B	Wallace, R.; Scheffer, I.; Parasivam, G.; Barnett, S.; Wallace, G.; Sutherland, G.; Berkovic, S.; Mulley, J.