Adelaide Research & Scholarship: Search

Search

Results 81-86 of 86 (Search time: 0.003 seconds).

previous
1
...
6
7
8
9
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2002	Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B	Wallace, R.; Scheffer, I.; Parasivam, G.; Barnett, S.; Wallace, G.; Sutherland, G.; Berkovic, S.; Mulley, J.
	1999	Partial seizures with focal epileptogenic electroencephalographic patterns in three related female patients with fragile-X syndrome	Singh, R.; Sutherland, G.; Manson, J.
	2005	MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer	Hitchins, M.; Williams, R.; Cheong, K.; Halani, N.; Lin, V.; Packham, D.; Ku, S.; Buckle, A.; Hawkins, N.; Burn, J.; Gallinger, S.; Goldblatt, J.; Kirk, J.; Tomlinson, I.; Scott, R.; Spigelman, A.; Suter, C.; Martin, D.; Suthers, G.; Ward, R.
	2001	Variable presentation of X-linked adrenal hypoplasia congenita	Wiltshire, E.; Couper, J.; Rodda, C.; Jameson, J.; Acherman, J.
	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.
	2006	Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource	Mann, G.; Thorne, H.; Balleine, R.; Butow, P.; Clarke, C.; Edkins, E.; Evans, G.; Fereday, S.; Haan, E.; Gattas, M.; Giles, G.; Goldblatt, J.; Hopper, J.; Kirk, J.; Leary, J.; Lindeman, G.; Niedermayr, E.; Phillips, K.; Picken, S.; Pupo, G.; et al.