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Results 1-10 of 20 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2017
Dominant protection from HLA-linked autoimmunity by antigen-specific regulatory T cells
Ooi, J.
;
Petersen, J.
;
Tan, Y.
;
Huynh, M.
;
Willett, Z.
;
Ramarathinam, S.
;
Eggenhuizen, P.
;
Loh, K.
;
Watson, K.
;
Gan, P.
;
Alikhan, M.
;
Dudek, N.
;
Handel, A.
;
Hudson, B.
;
Fugger, L.
;
Power, D.
;
Holt, S.
;
Coates, P.
;
Gregersen, J.
;
Purcell, A.
;
et al.
2015
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
Muona, M.
;
Berkovic, S.
;
Dibbens, L.
;
Oliver, K.
;
Maljevic, S.
;
Bayly, M.
;
Joensuu, T.
;
Canafoglia, L.
;
Franceschetti, S.
;
Michelucci, R.
;
Markkinen, S.
;
Heron, S.
;
Hildebrand, M.
;
Andermann, E.
;
Andermann, F.
;
Gambardella, A.
;
Tinuper, P.
;
Licchetta, L.
;
Scheffer, I.
;
Criscuolo, C.
;
et al.
2015
Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures
Yamamoto, T.
;
Shimojima, K.
;
Sangu, N.
;
Komoike, Y.
;
Ishii, A.
;
Abe, S.
;
Yamashita, S.
;
Imai, K.
;
Kubota, T.
;
Fukasawa, T.
;
Okanishi, T.
;
Enoki, H.
;
Tanabe, T.
;
Saito, A.
;
Furukawa, T.
;
Shimizu, T.
;
Milligan, C.
;
Petrou, S.
;
Heron, S.
;
Dibbens, L.
;
et al.
;
Ishii, R.
2009
Sequence variants in three loci influence monocyte counts and erythrocyte volume
Ferreira, M.
;
Hottenga, J.
;
Warrington, N.
;
Medland, S.
;
Willemsen, G.
;
Lawrence, R.
;
Gordon, S.
;
de Geus, E.
;
Henders, A.
;
Smit, J.
;
Campbell, M.
;
Wallace, L.
;
Evans, D.
;
Wright, M.
;
Nyholt, D.
;
James, A.
;
Beilby, J.
;
Penninx, B.
;
Palmer, L.
;
Frazer, I.
;
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.
2016
Ampullary cancers harbor ELF3 tumor suppressor gene mutations and exhibit frequent WNT dysregulation
Gingras, M.
;
Chang, D.
;
Donehower, L.
;
Covington, K.
;
Gill, A.
;
Ittmann, M.
;
Creighton, C.
;
Johns, A.
;
Shinbrot, E.
;
Dewal, N.
;
Fisher, W.
;
Pilarsky, C.
;
Grützmann, R.
;
Overman, M.
;
Jamieson, N.
;
Van Buren, G.
;
Drummond, J.
;
Walker, K.
;
Hampton, O.
;
Xi, L.
;
et al.
2013
Distinctive expansion of potential virulence genes in the genome of the oomycete fish pathogen Saprolegnia parasitica
Jiang, R.
;
de Bruijn, I.
;
Haas, B.
;
Belmonte, R.
;
Löbach, L.
;
Christie, J.
;
van den Ackerveken, G.
;
Bottin, A.
;
Bulone, V.
;
Díaz-Moreno, S.
;
Dumas, B.
;
Fan, L.
;
Gaulin, E.
;
Govers, F.
;
Grenville-Briggs, L.
;
Horner, N.
;
Levin, J.
;
Mammella, M.
;
Meijer, H.
;
Morris, P.
;
et al.
;
McDowell, J.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2011
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma
Khan, K.
;
Rudkin, A.
;
Parry, D.
;
Burdon, K.
;
McKibbin, M.
;
Logan, C.
;
Abdelhamed, Z.
;
Muecke, J.
;
Fernandez-Fuentes, N.
;
Laurie, K.
;
Shires, M.
;
Fogarty, R.
;
Carr, I.
;
Poulter, J.
;
Morgan, J.
;
Mohamed, M.
;
Jafri, H.
;
Raashid, Y.
;
Meng, N.
;
Piseth, H.
;
et al.
Discover
Author
3
Gecz, J.
3
Heron, S.
3
Tarpey, P.
3
Van Esch, H.
2
Chelly, J.
2
Corbett, M.
2
Dibbens, L.
2
Edkins, S.
2
Hoischen, A.
2
Hughes, J.
.
next >
Subject
18
Humans
15
Molecular Sequence Data
10
Male
10
Pedigree
9
Female
9
Mutation
8
Animals
6
Amino Acid Sequence
6
Mice
4
DNA-Binding Proteins
.
next >
Date issued
12
2010 - 2017
6
2000 - 2009
2
1996 - 1999