Adelaide Research & Scholarship: Search

Search

Search:
for

Current filters:

Start a new search

Add filters:

Results/Page | Sort items by In order Authors/record

Results 11-15 of 15 (Search time: 0.003 seconds).

previous
1
2
next

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.
	2005	Enzyme replacement therapy for Gaucher disease in Australia	Goldblatt, J.; Szer, J.; Fletcher, J.; McGill, J.; Rowell, J.; Wilson, M.
	2008	Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor β-subunit mutations outside the ion channel pore	Hoda, J.; Gu, W.; Friedli, M.; Phillips, H.; Bertrand, S.; Antonarakis, S.; Goudie, D.; Roberts, R.; Scheffer, I.; Marini, C.; Patel, J.; Berkovic, S.; Mulley, J.; Steinlein, O.; Bertrand, D.
	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.
	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.