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Preview	Issue Date	Title	Author(s)
	2018	Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder	Frints, S.G.M.; Ozanturk, A.; Rodríguez Criado, G.; Grasshoff, U.; de Hoon, B.; Field, M.; Manouvrier-Hanu, S.; E Hickey, S.; Kammoun, M.; Gripp, K.W.; Bauer, C.; Schroeder, C.; Toutain, A.; Mihalic Mosher, T.; Kelly, B.J.; White, P.; Dufke, A.; Rentmeester, E.; Moon, S.; Koboldt, D.C.; et al.
	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.
	1998	Molecular genetics of mucopolysaccharidosis type I - mutation analysis among the patients of the former Soviet Union	Voskoboeva, E.; Krasnopolskaya, X.; Mirenburg, T.; 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.
	2017	Incorrect dosage of IQSEC2, a known intellectual disability and epilepsy gene, disrupts dendritic spine morphogenesis	Hinze, S.; Jackson, M.; Lie, S.; Jolly, L.; Field, M.; Barry, S.; Harvey, R.; Shoubridge, C.
	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.