Adelaide Research & Scholarship: Search

Search

Results 1-10 of 64 (Search time: 0.002 seconds).

previous
1
2
3
4
...
7
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2016	TBC1D24 genotype-phenotype correlation	Balestrini, S.; Milh, M.; Castiglioni, C.; Lüthy, K.; Finelli, M.; Verstreken, P.; Cardon, A.; Stražišar, B.; Holder, J.; Lesca, G.; Mancardi, M.; Poulat, A.; Repetto, G.; Banka, S.; Bilo, L.; Birkeland, L.; Bosch, F.; Brockmann, K.; Cross, J.; Doummar, D.; et al.
	2019	Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assembly	Bryen, S.J.; Joshi, H.; Evesson, F.J.; Girard, C.; Ghaoui, R.; Waddell, L.B.; Testa, A.C.; Cummings, B.; Arbuckle, S.; Graf, N.; Webster, R.; MacArthur, D.G.; Laing, N.G.; Davis, M.R.; Lührmann, R.; Cooper, S.T.
	2019	Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2	Corbett, M.A.; Kroes, T.; Veneziano, L.; Bennett, M.F.; Florian, R.; Schneider, A.L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A.-F.; et al.
	2019	Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission	Guo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
	2019	Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia	Gorman, K.M.; Meyer, E.; Grozeva, D.; Spinelli, E.; McTague, A.; Sanchis-Juan, A.; Carss, K.J.; Bryant, E.; Reich, A.; Schneider, A.L.; Pressler, R.M.; Simpson, M.A.; Debelle, G.D.; Wassmer, E.; Morton, J.; Sieciechowicz, D.; Jan-Kamsteeg, E.; Paciorkowski, A.R.; King, M.D.; Cross, J.H.; et al.
	2019	Differential patterns of disease and injury in Mozambique: new perspectives from a pragmatic, multicenter, surveillance study of 7809 emergency presentations	Mocumbi, A.O.; Cebola, B.; Muloliwa, A.; Sebastiao, F.; Sitefane, S.J.; Manafe, N.; Dobe, I.; Lumbandali, N.; Keates, A.; Stickland, N.; Chan, Y.-K.; Stewart, S.; Silva, J.P.
	2011	Methodological issues associated with collecting sensitive information over the telephone - experience from an Australian non-suicidal self-injury (NSSI) prevalence study	Taylor, A.; Martin, G.; DalGrande, E.; Swannell, S.; Fullerton, S.; Hazell, P.; Harrison, J.
	2011	Changes in cystic fibrosis mortality in Australia, 1979-2005	Reid, D.; Leigh Blizzard, C.; Shugg, D.; Flowers, C.; Cash, C.; Greville, H.
	2013	Survival trends in pediatric in-hospital cardiac arrests: an analysis from get with the guidelines-resuscitation	Girotra, S.; Spertus, J.A.; Li, Y.; Berg, R.A.; Nadkarni, V.M.; Chan, P.S.
	2014	Characterization of stem-like cells in mucoepidermoid tracheal paediatric tumor	Lim, M.; Ooi, B.; Jungebluth, P.; Sjöqvist, S.; Hultman, I.; Lemon, G.; Gustafsson, Y.; Asmundsson, J.; Baiguera, S.; Douagi, I.; Gilevich, I.; Popova, A.; Haag, J.; Rodríguez, A.; Lim, J.; Liedén, A.; Nordenskjöld, M.; Alici, E.; Baker, D.; Unger, C.; et al.; Burns, J.