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Results 21-30 of 35 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
Tarpey, P.
;
Parnau, J.
;
Blow, M.
;
Woffendin, H.
;
Bignell, G.
;
Cox, C.
;
Cox, J.
;
Davies, H.
;
Edkins, S.
;
Holden, S.
;
Korny, A.
;
Mallya, U.
;
Moon, J.
;
O'Meara, S.
;
Parker, A.
;
Stephens, P.
;
Stevens, C.
;
Teague, J.
;
Donnelly, A.
;
Mangelsdorf, M.
;
et al.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
2008
Epilepsy and mental retardation limited to females: an under-recognized disorder
Scheffer, I.
;
Turner, S.
;
Dibbens, L.
;
Bayly, M.
;
Friend, K.
;
Hodgson, B.
;
Burrows, L.
;
Shaw, M.
;
Wei, C.
;
Ullmann, R.
;
Ropers, H.
;
Szepetowski, P.
;
Haan, E.
;
Mazarib, A.
;
Afawi, Z.
;
Neufeld, M.
;
Andrews, P.
;
Wallace, G.
;
Kivity, S.
;
Lev, D.
;
et al.
2007
The spectrum of SCNIA-related infantile epileptic encephalopathies
Harkin, L.
;
McMahon, J.
;
Iona, X.
;
Dibbens, L.
;
Pelekanos, J.
;
Zuberi, S.
;
Sadleir, L.
;
Andermann, E.
;
Gill, D.
;
Farrell, K.
;
Connolly, M.
;
Stanley, T.
;
Harbord, M.
;
Andermann, F.
;
Wang, J.
;
Batish, S.
;
Jones, J.
;
Seltzer, W.
;
Gardner, A.
;
Sutherland, G.
;
et al.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2004
Phase 2 evaluation of parainfluenza type 3 cold passage mutant 45 live attenuated vaccine in healthy children 6-18 months old
Belshe, R.
;
Newman, F.
;
Tsai, T.
;
Karron, R.
;
Reisinger, K.
;
Roberton, D.
;
Marshall, H.
;
Schwartz, R.
;
King, J.
;
Henderson, F.
;
Rodriguez, W.
;
Severs, J.
;
Wright, P.
;
Keyserling, H.
;
Weinberg, G.
;
Bromberg, K.
;
Loh, R.
;
Sly, P.
;
McIntyre, P.
;
Ziegler, J.
;
et al.
2004
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein
Sarafidou, T.
;
Kahl, C.
;
Martinez-Garay, I.
;
Mangelsdorf, M.
;
Gesk, S.
;
Baker, E.
;
Kokkinaki, M.
;
Talley, P.
;
Maltby, E.
;
French, L.
;
Harder, L.
;
Hinzmann, B.
;
Nobile, C.
;
Richkind, K.
;
Finnis, M.
;
Deloukas, P.
;
Sutherland, G.
;
Kutsche, K.
;
Moschonas, N.
;
Siebert, R.
;
et al.
2004
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation
Teber, O.
;
Gillessen-Kaesbach, G.
;
Fischer, S.
;
Bohringer, S.
;
Albrecht, B.
;
Albert, A.
;
Arslan-Kirchner, M.
;
Haan, E.
;
Hagedorn-Greiwe, M.
;
Hammans, C.
;
Henn, W.
;
Hinkel, G.
;
Konig, R.
;
Kunstmann, E.
;
Kunze, J.
;
Neumann, L.
;
Prott, E.
;
Rauch, A.
;
Rott, H.
;
Seidel, H.
;
et al.
2003
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Kalscheuer, V.
;
Freude, K.
;
Musante, L.
;
Jensen, L.
;
Yntema, H.
;
Gecz, J.
;
Sefiani, A.
;
Hoffmann, K.
;
Moser, B.
;
Haas, S.
;
Gurok, U.
;
Haesler, S.
;
Aranda, B.
;
Nshedjan, A.
;
Tzschach, A.
;
Hartmann, N.
;
Roloff, T.
;
Shoichet, S.
;
Hagens, O.
;
Tao, J.
;
et al.
Discover
Author
8
Tarpey, P.
6
Edkins, S.
6
Gecz, J.
5
Dibbens, L.
5
O'Meara, S.
5
Van Esch, H.
4
Achenbach, T.
4
Almqvist, F.
4
Barthorpe, S.
4
Bilenberg, N.
.
next >
Subject
25
Humans
16
Female
16
Male
13
Pedigree
12
Mutation
10
Molecular Sequence Data
9
Mental Retardation, X-Linked
7
Adult
7
Child
7
Phenotype
.
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Date issued
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2009
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2005
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2004
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2003
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2002