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Issue Date
Title
Author(s)
2015
Five-year survival of children with chronic critical illness in Australia and New Zealand
Namachivayam, S.
;
Alexander, J.
;
Slater, A.
;
Millar, J.
;
Erickson, S.
;
Tibballs, J.
;
Festa, M.
;
Ganu, S.
;
Segedin, L.
;
Schlapbach, L.
;
Williams, G.
;
Shann, F.
;
Butt, W.
2015
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype
Terhal, P.
;
Nievelstein, R.
;
Verver, E.
;
Topsakal, V.
;
van Dommelen, P.
;
Hoornaert, K.
;
Le Merrer, M.
;
Zankl, A.
;
Simon, M.
;
Smithson, S.
;
Marcelis, C.
;
Kerr, B.
;
Clayton-Smith, J.
;
Kinning, E.
;
Mansour, S.
;
Elmslie, F.
;
Goodwin, L.
;
van der Hout, A.
;
Veenstra-Knol, H.
;
Herkert, J.
;
et al.
2018
The multifaceted presentation of chronic recurrent multifocal osteomyelitis: a series of 486 cases from the Eurofever international registry
Girschick, H.
;
Finetti, M.
;
Orlando, F.
;
Schalm, S.
;
Insalaco, A.
;
Ganser, G.
;
Nielsen, S.
;
Herlin, T.
;
Koné-Paut, I.
;
Martino, S.
;
Cattalini, M.
;
Anton, J.
;
Al-Mayouf, S.
;
Hofer, M.
;
Quartier, P.
;
Boros, C.
;
Kuemmerle-Deschner, J.
;
Pires Marafon, D.
;
Alessio, M.
;
Schwarz, T.
;
et al.
2000
No evidence for association of 5-HT2A receptor polymorphism with suicide
Crawford, J.
;
Sutherland, G.
;
Goldney, R.
2006
Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Stadler, S.
;
Polanetz, R.
;
Maier, E.
;
Heidenreich, S.
;
Niederer, B.
;
Mayerhofer, P.
;
Lagler, F.
;
Koch, H.
;
Santer, R.
;
Fletcher, J.
;
Ranieri, E.
;
Das, A.
;
Spiekerkotter, U.
;
Schwab, K.
;
Potzsch, S.
;
Marquardt, I.
;
Hennermann, J.
;
Knerr, I.
;
Mercimek-Mahmutoglu, S.
;
Kohlschmidt, N.
;
et al.
2014
Outcomes of repair of complete atrioventricular septal defect in the current era
Xie, O.
;
Brizard, C.
;
D'udekem, Y.
;
Galati, J.
;
Kelly, A.
;
Yong, M.
;
Weintraub, R.
;
Konstantinov, I.
2005
Prosaposin deficiency - a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient
Elleder, M.
;
Jerabkova, M.
;
Befekadu, A.
;
Hrebicek, M.
;
Berna, L.
;
Ledvinova, J.
;
Hulkova, H.
;
Rosewich, H.
;
Schymik, N.
;
Paton, Barbara Cleland
;
Harzer, K.
2009
Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1
Carvalho, M.
;
Pino, M.
;
Karchin, R.
;
Beddor, J.
;
Godinho-Netto, M.
;
Mesquita, R.
;
Rodarte, R.
;
Vaz, D.
;
Monteiro, V.
;
Manoukian, S.
;
Colombo, M.
;
Ripamonti, C.
;
Rosenquist, R.
;
Suthers, G.
;
Borg, A.
;
Radice, P.
;
Grist, S.
;
Monteiro, A.
;
Billack, B.
2009
Preoperative use of ultrasonography to localize an ingested foreign body
Piotto, L.
;
Gent, R.
;
Kirby, C.
;
Morris, L.
2014
Development of paediatric biochemistry centile charts as a complement to laboratory reference intervals
Loh, T.
;
Antoniou, G.
;
Baghurst, P.
;
Metz, M.
Discover
Author
75
Marshall, H.
74
Ferrante, A.
71
Omari, T.
69
Mol, B.
66
Gibson, R.
65
Grzeskowiak, L.
63
Couper, J.
58
Brooks, D.
54
Clifton, V.
54
Martin, A.
.
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Subject
11
92 Health
10
11 Medical and Health Sciences
7
9201 Clinical Health (Organs, Dis...
6
1114 Paediatrics and Reproductive...
5
06 Biological Sciences
5
0604 Genetics
4
060403 Developmental Genetics (in...
4
1103 Clinical Sciences
4
110311 Medical Genetics (excl. Ca...
4
111403 Paediatrics
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