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Issue Date
Title
Author(s)
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
Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome
Chang, J.
;
Azziz, R.
;
Legro, R.
;
Dewailly, D.
;
Franks, S.
;
Tarlatzis, R.
;
Fauser, B.
;
Balen, A.
;
Bouchard, P.
;
Dalgien, E.
;
Devoto, L.
;
Diamanti, E.
;
Dunaif, A.
;
Filicori, M.
;
Homburg, R.
;
Albanez, L.
;
Laven, J.
;
Magoffin, D.
;
Nestler, J.
;
Norman, R.
;
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.
2001
Treatment of preterm labor with the oxytocin antagonist atosiban: a double-bind, randomized, controlled comparison with salbutamol
Cabrol, D.
;
Gillett, J.
;
Madelenat, P.
;
Lansac, J.
;
Paniel, B.
;
Dellenbach, P.
;
Lemoine, J.
;
Bronstein, R.
;
Leng, J.
;
Laurent, M.
;
Mares, P.
;
Hedon, B.
;
Magnin, G.
;
Treisser, A.
;
Schumacher, J.
;
Grosieux, P.
;
Jacquetin, P.
;
Bruhat, M.
;
Segard, L.
;
Puech, F.
;
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.
2003
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene
Davis, M.
;
Haan, E.
;
Jungbluth, H.
;
Sewry, C.
;
North, K.
;
Muntoni, F.
;
Kuntzer, T.
;
Lamont, P.
;
Bankier, A.
;
Tomlinson, P.
;
Sanchez, A.
;
Walsh, P.
;
Nagarajan, L.
;
Oley, C.
;
Colley, A.
;
Gedeon, A.
;
Quinlivan, R.
;
Dixon, J.
;
James, D.
;
Muller, C.
;
et al.
2009
IFPA meeting 2008 workshops report
Lash, G.
;
Ansari, T.
;
Bischof, P.
;
Burton, G.
;
Chamley, L.
;
Crocker, I.
;
Dantzer, V.
;
Desoye, G.
;
Drewlo, S.
;
Fazleabas, A.
;
Jansson, T.
;
Keating, S.
;
Kliman, H.
;
Lang, I.
;
Mayhew, T.
;
Meiri, H.
;
Miller, R.
;
Nelson, D.
;
Pfarrer, C.
;
Roberts, C.
;
et al.
2009
SCN1A duplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis
Marini, C.
;
Scheffer, I.
;
Nabbout, R.
;
Mei, D.
;
Cox, K.
;
Dibbens, L.
;
McMahon, J.
;
Iona, X.
;
Carpintero, R.
;
Elia, M.
;
Cilio, M.
;
Specchio, N.
;
Giordano, L.
;
Striano, P.
;
Genarro, E.
;
Cross, J.
;
Kivity, S.
;
Neufeld, M.
;
Afawi, Z.
;
Andermann, E.
;
et al.
2004
Grading quality of evidence and strength of recommendations
Atkins, D.
;
Best, D.
;
Briss, P.
;
Eccles, M.
;
Falck-Ytter, Y.
;
Flottorp, S.
;
Guyatt, G.
;
Harbour, R.
;
Haugh, M.
;
Henry, D.
;
Hill, S.
;
Jaeschke, R.
;
Leng, G.
;
Liberati, A.
;
Maggrini, N.
;
Mason, J.
;
Middleton, P.
;
Mrukowicz, J.
;
O'Connell, D.
;
Oxman, A.
;
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
6
2004
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2003
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2002
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2001