Adelaide Research & Scholarship: Search

Search

Results 1-10 of 51 (Search time: 0.003 seconds).

previous
1
2
3
4
...
6
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2008	X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment	Dibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
	2004	Nxf and Fbxo33: novel seizure-responsive genes in mice	Flood, W.; Moyer, R.; Tsykin, A.; Sutherland, G.; Koblar, S.
	2007	Morphopathological features in tissues of α-mannosidosis guinea pigs at different gestational ages	Auclair, D.; Hopwood, J.
	2017	Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling	Hughes, J.; Dawson, R.; Tea, M.; McAninch, D.; Piltz, S.; Jackson, D.; Stewart, L.; Ricos, M.; Dibbens, L.; Harvey, N.; Thomas, P.
	1996	Clinicopathologic features of congenital aneurysms of the great vessels	Ades, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
	2000	Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor family	Parker, R.; Copeland, N.; Eyre, H.; Liu, M.; Gilbert, D.; Crawford, J.; Couzens, M.; Sutherland, G.; Jenkins, N.; Herzog, H.
	2004	The molecular basis of intellectual disability: novel genes with naturally occurring mutations causing altered gene expression in the brain	Gecz, J.
	1995	Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome	Ades, L.; Morris, L.; Power, R.; Wilson, M.; Haan, E.; Bateman, J.; Milewicz, D.; Sillence, D.
	2015	HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.	Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
	2013	The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth	Jolly, L.; Homan, C.; Jacob, R.; Barry, S.; Gecz, J.