Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.


Results 11-20 of 23 (Search time: 0.003 seconds).
Item hits:
PreviewIssue DateTitleAuthor(s)
2007Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAli, 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.
2013Parental perspectives of vaccine safety and experience of adverse events following immunisationParrella, A.; Gold, M.; Marshall, H.; Braunack-Mayer, A.; Baghurst, P.
1997The spectrum of primary immundeficiency disorders in AustraliaBaumgart, K.; Britton, W.; Kemp, A.; French, M.; Roberton, D.
1995Longitudinal evaluation of serum trypsinogen measurement in pancreatic-insufficient and pancreatic-sufficient patients with cystic fibrosisCouper, R.; Corey, M.; Durie, P.; Forstner, G.; Moore, D.
2005Early onset seizures and Rett-like features associated with mutations in CDKL5Evans, 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.
2001Nationwide study of haemolytic uraemic syndrome: clinical, microbiological, and epidemiological featuresElliott, E.; Robins-Browne, R.; O'Loughlin, E.; Bennett-Wood, V.; Bourke, J.; Henning, P.; Hogg, G.; Knight, J.; Powell, H.; Redmond, D.
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, 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.
2009A Novel Bocavirus Associated with Acute Gastroenteritis in Australian ChildrenArthur, J.; Higgins, G.; Davidson, G.; Givney, R.; Ratcliff, R.; Münger, K.
2002Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1BWallace, R.; Scheffer, I.; Parasivam, G.; Barnett, S.; Wallace, G.; Sutherland, G.; Berkovic, S.; Mulley, J.
2017Associations of newborn brain magnetic resonance imaging with long-term neurodevelopmental impairments in very preterm childrenAnderson, P.J.; Treyvaud, K.; Neil, J.J.; Cheong, J.L.Y.; Hunt, R.W.; Thompson, D.K.; Lee, K.J.; Doyle, L.W.; Inder, T.E.