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Issue Date
Title
Author(s)
2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression
Frints, S.
;
Lenzer, S.
;
Bauters, M.
;
Jensen, L.
;
Van Esch, H.
;
des Portes, V.
;
Moog, U.
;
Macville, M.
;
Roozendaal, K.
;
Schrander-Stumpel, C.
;
Tzschach, A.
;
Marynen, P.
;
Fryns, J.
;
Hamel, B.
;
van Bokhoven, H.
;
Chelly, J.
;
Beldjord, C.
;
Turner, G.
;
Gecz, J.
;
Moraine, C.
;
et al.
2009
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy
Lugtenberg, D.
;
Kleefstra, T.
;
Oudakker, A.
;
Nillesen, W.
;
Yntema, H.
;
Tzschach, A.
;
Raynaud, M.
;
Rating, D.
;
Journel, H.
;
Chelly, J.
;
Goizet, C.
;
Lacombe, D.
;
Pedespan, J.
;
Echenne, B.
;
Tariverdian, G.
;
O'Rourke, D.
;
King, M.
;
Green, A.
;
Van Kogelenberg, M.
;
Van Esch, H.
;
et al.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
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.
2008
Consensus on infertility treatment related to polycystic ovary syndrome
Tarlatzis, R.
;
Fauser, B.
;
Legro, R.
;
Norman, R.
;
Hoeger, K.
;
Pasquali, R.
;
Franks, S.
;
Messinis, I.
;
Csper, R.
;
Homburg, R.
;
Lobo, R.
;
Rebar, R.
;
Fleming, R.
;
Carr, B.
;
Bouchard, P.
;
Chang, J.
;
Hugues, J.
;
Azziz, R.
;
Kolibianakis, E.
;
Griesinger, G.
;
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
28
Humans
17
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
7
2009
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2008
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2007
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2006
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2005
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2004
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2003
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2002
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2001