Adelaide Research & Scholarship: Search

Search

Results 11-20 of 24 (Search time: 0.004 seconds).

Item hits:

Preview	Issue Date	Title	Author(s)
	2007	Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor	Ali, A.; Christie, P.; Grigorieva, I.; Harding, B.; Van Esch, H.; Ahmed, S.; Bitner-Glindzicz, M.; Blind, E.; Bloch, C.; Christin, P.; Clayton, P.; Gecz, J.; Gilbert-Dussardier, B.; Guillen-Navarro, E.; Hackett, A.; Halac, I.; Hendy, G.; Lalloo, F.; Mache, C.; Mughal, Z.; et al.
	2004	Phase 2 evaluation of parainfluenza type 3 cold passage mutant 45 live attenuated vaccine in healthy children 6-18 months old	Belshe, R.; Newman, F.; Tsai, T.; Karron, R.; Reisinger, K.; Roberton, D.; Marshall, H.; Schwartz, R.; King, J.; Henderson, F.; Rodriguez, W.; Severs, J.; Wright, P.; Keyserling, H.; Weinberg, G.; Bromberg, K.; Loh, R.; Sly, P.; McIntyre, P.; Ziegler, J.; et al.
	2001	Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)	Scheffer, I.; Wallace, R.; Mulley, J.; Berkovic, S.
	2002	Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX	Stromme, P.; Mangelsdorf, M.; Scheffer, I.; Gecz, J.
	1998	Somatic mutation of immunoglobulin V(H)6 genes in human infants	Ridings, J.; Dinan, L.; Williams, R.; Roberton, D.; Zola, H.
	2010	Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study	McIntosh, A.; McMahon, J.; Dibbens, L.; Iona, X.; Mulley, J.; Scheffer, I.; Berkovic, S.
	2005	Early onset seizures and Rett-like features associated with mutations in CDKL5	Evans, J.; Archer, H.; Colley, J.; Ravn, K.; Nielsen, J.; Kerr, A.; Williams, E.; Christodoulou, J.; Gecz, J.; Jardine, P.; Wright, M.; Pilz, D.; Lazarou, L.; Cooper, D.; Sampson, J.; Butler, R.; Whatley, S.; Clarke, A.
	2005	Enzyme replacement therapy for Gaucher disease in Australia	Goldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
	2005	Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+)	Scheffer, I.; Harkin, L.; Dibbens, L.; Mulley, J.; Berkovic, S.
	2012	Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing	Calvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.