Adelaide Research & Scholarship: Search

Search

Results 71-78 of 78 (Search time: 0.005 seconds).

previous
1
...
5
6
7
8
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2004	Mutations of the mitochondrial ND1 gene as a cause of MELAS	Kirby, D.; McFarland, R.; Ohtake, A.; Dunning, C.; Ryan, M.; Wilson, C.; Ketteridge, D.; Turnbull, D.; Thorburn, D.; Taylor, R.
	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.
	2001	Variable presentation of X-linked adrenal hypoplasia congenita	Wiltshire, E.; Couper, J.; Rodda, C.; Jameson, J.; Acherman, J.
	2001	Expression and characterization of human recombinant and a-N-actylglucosaminidase	Weber, B.; Hopwood, J.; Yogalingam, G.
	2001	Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients	Perkins, K.; Muller, V.; Weber, B.; Hopwood, J.
	2001	Characterization of ARHGEF6, a guanine nucleotide exchange factor for Rho GTPases and a candidate gene for x-linked mental retardation: Mutation screening in Borjeson-Forssman-Lehmann syndrome and MRX27	Lower, K.; Gecz, J.
	2006	ARX: a gene for all seasons	Gecz, J.; Cloosterman, D.; Partington, M.
	2009	SCARB2 Mutations in Progressive Myoclonus Epilepsy (PME) Without Renal Failure	Dibbens, L.; Michelucci, R.; Gambardella, A.; Andermann, F.; Rubboli, G.; Bayly, M.; Joensuu, T.; Vears, D.; Franceschetti, S.; Canafoglia, L.; Wallace, R.; Bassuk, A.; Power, D.; Tassinari, C.; Andermann, E.; Lehesjoki, A.; Berkovic, S.