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Issue Date
Title
Author(s)
2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey, P.
;
Smith, R.
;
Pleasance, E.
;
Whibley, A.
;
Edkins, S.
;
Hardy, C.
;
O'Meara, S.
;
Latimer, C.
;
Dicks, E.
;
Menzies, A.
;
Stephens, P.
;
Blow, M.
;
Greenman, C.
;
Xue, Y.
;
Tyler-Smith, C.
;
Thompson, D.
;
Gray, K.
;
Andrews, J.
;
Barthorpe, S.
;
Buck, G.
;
et al.
2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Shoubridge, C.
;
Tarpey, P.
;
Abidi, F.
;
Ramsden, S.
;
Rujirabanjerd, S.
;
Murphy, J.
;
Boyle, J.
;
Shaw, M.
;
Gardner, A.
;
Proos, A.
;
Puusepp, H.
;
Raymond, F.
;
Schwartz, C.
;
Stevenson, R.
;
Turner, G.
;
Field, M.
;
Walikonis, R.
;
Harvey, R.
;
Hackett, A.
;
Futreal, P.
;
et al.
2010
PHF6 mutations in T-cell acute lymphoblastic leukemia
Van Vlierberghe, P.
;
Palomero, T.
;
Khiabanian, H.
;
Van der Meulen, J.
;
Castillo, M.
;
Van Roy, N.
;
De Moerloose, B.
;
Philippe, J.
;
Gonzalez-Garcia, M.
;
Toribio, M.
;
Taghon, T.
;
Zuurbier, L.
;
Cauwelier, B.
;
Harrison, C.
;
Schwab, C.
;
Pisecker, M.
;
Strehl, S.
;
Langerak, A.
;
Gecz, J.
;
Sonneveld, E.
;
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.
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.
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.
2011
Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I
He, H.
;
Liyanarachchi, S.
;
Akagi, K.
;
Nagy, R.
;
Li, J.
;
Dietrich, R.
;
Li, W.
;
Sebastian, N.
;
Wen, B.
;
Xin, B.
;
Singh, J.
;
Yan, P.
;
Alder, H.
;
Haan, E.
;
Wieczorek, D.
;
Albrecht, B.
;
Puffenberger, E.
;
Wang, H.
;
Westman, J.
;
Padgett, R.
;
et al.
2010
Lynch syndrome-associated breast cancers: Clinicopathologic characteristics of a case series from the colon cancer family registry
Walsh, M.
;
Buchanan, D.
;
Cummings, M.
;
Pearson, S.
;
Arnold, S.
;
Clendenning, M.
;
Walters, R.
;
McKeone, D.
;
Spurdle, A.
;
Hopper, J.
;
Jenkins, M.
;
Phillips, K.
;
Suthers, G.
;
George, J.
;
Goldblatt, J.
;
Muir, A.
;
Tucker, K.
;
Pelzer, E.
;
Gattas, M.
;
Woodall, S.
;
et al.
Discover
Author
8
Gecz, J.
8
Tarpey, P.
6
Edkins, S.
6
Field, M.
5
O'Meara, S.
5
Van Esch, H.
4
Barthorpe, S.
4
Buck, G.
4
Corbett, M.
4
Gardner, A.
.
next >
Subject
43
Humans
37
Female
22
Mutation
19
Pedigree
18
Child
14
Adult
13
Mental Retardation, X-Linked
12
Child, Preschool
11
Adolescent
9
Molecular Sequence Data
.
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Date issued
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2020 - 2022
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2010 - 2019
16
2000 - 2009
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1997 - 1999