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Issue Date
Title
Author(s)
2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
Dibbens, L.
;
Tarpey, P.
;
Hynes, K.
;
Bayly, M.
;
Scheffer, I.
;
Smith, R.
;
Bomar, J.
;
Sutton, E.
;
Vandeleur, L.
;
Shoubridge, C.
;
Edkins, S.
;
Turner, S.
;
Stevens, C.
;
O'Meara, S.
;
Tofts, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Halliday, K.
;
Jones, D.
;
et al.
1995
An integrated physical map of human chromosome 16
Doggett, N.
;
Goodwin, L.
;
Tesmer, J.
;
Meincke, L.
;
Bruce, D.
;
Clark, L.
;
Altherr, M.
;
Ford, A.
;
Chi, H.C.
;
Marrone, B.
;
Longmire, J.
;
Lane, S.
;
Whitmore, S.
;
Lowenstein, N.
;
Sutherland, G.
;
Mundt, M.
;
Knill, E.
;
Bruno, W.
;
Macken, C.
;
Torney, D.
;
et al.
2007
Epidemiological comparisons of problems and positive qualities reported by adolescents in 24 countries
Rescorla, L.
;
Achenbach, T.
;
Ivanova, M.
;
Dumenci, L.
;
Almqvist, F.
;
Bilenberg, N.
;
Bird, H.
;
Broberg, A.
;
Dobrean, A.
;
Dopfner, M.
;
Erol, N.
;
Forns, M.
;
Hannesdottir, H.
;
Kanbayashi, Y.
;
Lambert, M.
;
Leung, P.
;
Minaei, A.
;
Mulatu, M.
;
Novik, T.
;
Oh, K.
;
et al.
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2018
The impact of the 13 valent conjugate pneumococcal vaccine on pneumococcal serotypes causing childhood empyema in Australia
Strachan, R.
;
Beggs, S.
;
Fearon, D.
;
Gilbert, G.
;
Homaira, N.
;
Lambert, S.
;
Marshall, H.
;
Martin, A.
;
McCallum, G.
;
McCullagh, A.
;
McDonald, T.
;
Mcintyre, P.
;
Oftadeh, S.
;
Ranganathan, S.
;
Suresh, S.
;
Teoh, L.
;
Twaij, A.
;
Wainwright, C.
;
Wong, M.
;
Snelling, T.
;
et al.
;
The Australia & New Zealand Society of Respiratory Science and The Thoracic Society of Australia and New Zealand (ANZSRS/TSANZ) Annual Scientific Meeting 2018 (23 Mar 2018 - 27 Mar 2018 : Adelaide, AUSTRALIA)
2014
The inherited cancer connect (iccon) mutation-carrier database
James, P.A.
;
Petelin, L.
;
Campbell, I.
;
Dawkins, H.
;
Fox, S.
;
Hiller, J.
;
Kirk, J.
;
Lindeman, G.
;
Macrae, F.
;
Mascarenhas, L.
;
McGaughran, J.
;
Meiser, B.
;
Morrow, A.
;
Nichols, C.
;
Pachter, N.
;
Saunders, C.
;
Scott, C.
;
Poplawski, N.
;
Thrupp, L.
;
Trainer, A.
;
et al.
;
COSA's 41st Annual Scientific Meeting. Joining Forces - Accelerating Progress (2 Dec 2014 - 4 Dec 2014 : Melbourne, Vic.)
2017
Gut Virome Dynamics during Pregnancy in Mothers with Type 1 Diabetes
Kim, K.W.
;
Allen, D.W.
;
Briese, T.
;
Pang, C.N.
;
Jain, K.
;
Horton, J.L.
;
Isaacs, S.R.
;
Wilkins, M.R.
;
Couper, J.
;
Penno, M.A.S.
;
Harrison, L.C.
;
Morahan, G.
;
Harris, M.
;
Cotterill, A.M.
;
Morbey, C.
;
Barry, S.C.
;
Haynes, A.
;
Davis, E.
;
Colman, P.
;
Giles, L.
;
et al.
;
77th Scientific Sessions of the American Diabetes Association (9 Jun 2017 - 13 Jun 2017 : San Diego, CA)
2020
Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 Mendelian neurodevelopmental disorders
Aref-Eshghi, E.
;
Kerkhof, J.
;
Pedro, V.
;
Barat-Houari, M.
;
Ruiz-Pallares, N.
;
Alders, M.
;
Mannens, M.
;
Henneman, P.
;
Hennekam, R.C.
;
Ciolfi, A.
;
Pizzi, S.
;
Tartaglia, M.
;
Campeau, P.M.
;
Rousseau, J.
;
Levy, M.A.
;
Brick, L.
;
Kozenko, M.
;
Balci, T.B.
;
Siu, V.M.
;
Stuart, A.
;
et al.
;
53rd European Society of Human Genetics (ESHG) Conference (6 Jun 2020 - 9 Jun 2020 : Virtual Online)
2019
Preferred learning modalities and practice for critical skills: a global survey of paediatric emergency medicine clinicians
Craig, S.S.
;
Auerbach, M.
;
Cheek, J.A.
;
Babl, F.E.
;
Oakley, E.
;
Nguyen, L.
;
Rao, A.
;
Dalton, S.
;
Lyttle, M.D.
;
Mintegi, S.
;
Nagler, J.
;
Mistry, R.D.
;
Dixon, A.
;
Rino, P.
;
Kohn-Loncarica, G.
;
Dalziel, S.R.
;
Tzimenatos, L.
;
Mistry, R.
;
Brown, K.
;
Powell, E.
;
et al.
Discover
Author
14
Gecz, J.
12
Porath, M.
10
Bloemenkamp, K.
10
Tarpey, P.
10
Van Esch, H.
9
Field, M.
9
Haan, E.
9
Hackett, A.
8
Corbett, M.
8
Kwee, A.
.
next >
Subject
14
Mental Retardation, X-Linked
11
Chromosomes, Human, X
11
Infant, Newborn
11
Middle Aged
11
Pregnancy
10
Animals
10
Base Sequence
10
Cohort Studies
10
Intellectual Disability
10
Phenotype
.
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Date issued
19
2020 - 2024
85
2010 - 2019
35
2000 - 2009
3
1995 - 1999