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Results 1-10 of 13 (Search time: 0.002 seconds).
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Issue Date
Title
Author(s)
2010
Genome-wide identification of human FOXP3 target genes in natural regulatory T cells
Sadlon, T.
;
Wilkinson, B.
;
Pederson, S.
;
Brown, C.
;
Bresatz, S.
;
Gargett, T.
;
Melville, E.
;
Peng, K.
;
D'Andrea, R.
;
Glonek, G.
;
Goodall, G.
;
Zola, H.
;
Shannon, F.
;
Barry, S.
2012
CDP-diacylglycerol synthetase-controlled phosphoinositide availability limits VEGFA signaling and vascular morphogenesis
Pan, W.
;
Pham, V.
;
Stratman, A.
;
Castranova, D.
;
Kamei, M.
;
Kidd, K.
;
Lo, B.
;
Shaw, K.
;
Torres-Vazquez, J.
;
Mikelis, C.
;
Gutkind, J.
;
Davis, G.
;
Weinstein, B.
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.
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.
2013
De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review
Jolley, A.
;
Corbett, M.
;
McGregor, L.
;
Waters, W.
;
Brown, S.
;
Nicholl, J.
;
Yu, S.
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.
2010
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
Giannandrea, M.
;
Bianchi, V.
;
Mignogna, M.
;
Sirri, A.
;
Carrabino, S.
;
D'Elia, E.
;
Vecellio, M.
;
Russo, S.
;
Cogliati, F.
;
Larizza, L.
;
Ropers, H.
;
Tzschach, A.
;
Kalscheuer, V.
;
Oehl-Jaschkowitz, B.
;
Skinner, C.
;
Schwartz, C.
;
Gecz, J.
;
Van Esch, H.
;
Raynaud, M.
;
Chelly, J.
;
et al.
2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Lynch, S.
;
Nguyen, L.
;
Ng, L.
;
Waldron, M.
;
McDonald, D.
;
Gecz, J.
2010
DNA methylation-mediated Down-regulation of DNA methyltransferase-1 (DNMT1) is coincident with, but not essential for, global hypomethylation in human placenta
Novakovic, B.
;
Wong, N.
;
Sibson, M.
;
Ng, H.
;
Morley, R.
;
Manuelpillai, U.
;
Down, T.
;
Rakyan, V.
;
Beck, S.
;
Hiendleder, S.
;
Roberts, C.
;
Craig, J.
;
Saffery, R.
2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
Hoischen, A.
;
Van Bon, B.
;
Gilissen, C.
;
Arts, P.
;
van Lier, B.
;
Steehouwer, M.
;
de Vries, P.
;
de Reuver, R.
;
Wieskamp, N.
;
Mortier, G.
;
Devriendt, K.
;
Amorim, M.
;
Revencu, N.
;
Kidd, A.
;
Barbosa, M.
;
Turner, A.
;
Smith, J.
;
Olay, C.
;
Henderson, A.
;
Hayes, I.
;
et al.
Discover
Author
5
et al.
4
Gecz, J.
3
Scheffer, I.
2
Bayly, M.
2
Berkovic, S.
2
Brown, N.
2
Christodoulou, J.
2
Corbett, M.
2
Dibbens, L.
2
Haan, E.
.
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Subject
11
Humans
8
Molecular Sequence Data
7
Male
6
Female
6
Mutation
5
Animals
4
Child
4
Pedigree
3
Amino Acid Sequence
3
Autistic Disorder
.
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2012
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2010