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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.
	2014	Refining analyses of copy number variation identifies specific genes associated with developmental delay	Coe, B.; Witherspoon, K.; Rosenfeld, J.; van Bon, B.; Vulto-van Silfhout, A.; Bosco, P.; Friend, K.; Baker, C.; Buono, S.; Vissers, L.; Schuurs-Hoeijmakers, J.; Hoischen, A.; Pfundt, R.; Krumm, N.; Carvill, G.; Li, D.; Amaral, D.; Brown, N.; Lockhart, P.; Scheffer, I.; et al.
	1998	Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2	Scheffer, I.; Phillips, H.; O'Brien, C.; Saling, M.; Wrennall, J.; Wallace, R.; Mulley, J.; Berkovic, S.
	2016	Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID	van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al.
	2014	Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations	Scheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
	2004	Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families	Marini, C.; Scheffer, I.; Crossland, K.; Grinton, B.; Phillips, F.; McMahon, J.; Turner, S.; Dean, J.; Kivity, S.; Mazarib, A.; Neufeld, M.; Korczyn, A.; Harkin, L.; Dibbens, L.; Wallace, R.; Mulley, J.; Berkovic, S.
	2004	GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies	Dibbens, L.; Feng, H.; Richards, M.; Harkin, L.; Hodgson, B.; Scott, D.; Jenkins, M.; Petrou, S.; Sutherland, G.; Scheffer, I.; Berkovic, S.; Mcdonald, R.; Mulley, J.
	2009	Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance	Dibbens, L.; Mullen, S.; Helbig, I.; Mefford, H.; Bayly, M.; Bellows, S.; Leu, C.; Trucks, H.; Obermeier, T.; Wittig, M.; Franke, A.; Caglayan, H.; Yapici, Z.; Sander, T.; Eichler, E.; Scheffer, I.; Mulley, J.; Berkovic, S.
	2008	Navigating the channels and beyond: unravelling the genetics of the epilepsies	Helbig, I.; Scheffer, I.; Mulley, J.; Berkovic, S.
	1995	Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to 20q13.2	Phillips, H.; Scheffer, I.; Berkovic, S.; Hollway, G.; Sutherland, G.; Mulley, J.