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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.
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.
2018
A C6orf10/LOC101929163 locus is associated with age of onset in C9orf72 carriers
Zhang, M.
;
Ferrari, R.
;
Tartaglia, M.C.
;
Keith, J.
;
Surace, E.I.
;
Wolf, U.
;
Sato, C.
;
Grinberg, M.
;
Liang, Y.
;
Xi, Z.
;
Dupont, K.
;
McGoldrick, P.
;
Weichert, A.
;
McKeever, P.M.
;
Schneider, R.
;
McCorkindale, M.D.
;
Manzoni, C.
;
Rademakers, R.
;
Graff-Radford, N.R.
;
Dickson, D.W.
;
et al.
2014
Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing
Buchanan, D.
;
Tan, Y.
;
Walsh, M.
;
Clendenning, M.
;
Metcalf, A.
;
Ferguson, K.
;
Arnold, S.
;
Thompson, B.
;
Lose, F.
;
Parsons, M.
;
Walters, R.
;
Pearson, S.
;
Cummings, M.
;
Oehler, M.
;
Blomfield, P.
;
Quinn, M.
;
Kirk, J.
;
Stewart, C.
;
Obermair, A.
;
Young, J.
;
et al.
2023
Transnasal Humidified Rapid Insufflation Ventilatory Exchange in children requiring emergent intubation (Kids THRIVE): a statistical analysis plan for a randomised controlled trial
George, S.
;
Gibbons, K.
;
Williams, T.
;
Humphreys, S.
;
Gelbart, B.
;
Le Marsney, R.
;
Craig, S.
;
Tingay, D.
;
Chavan, A.
;
Schibler, A.
;
Cronin, J.
;
Pearson, K.
;
Rasmussen, K.
;
Acworth, J.
;
Hickey, L.
;
Delzoppo, C.
;
Perkins, E.
;
Oberender, F.
;
Waghorn, J.
;
McCahill, C.
;
et al.
2020
Evaluation of DNA methylation episignatures for diagnosis and phenotype correlations in 42 mendelian neurodevelopmental disorders
Aref-Eshghi, E.
;
Kerkhof, J.
;
Pedro, V.P.
;
Barat-Houari, M.
;
Ruiz-Pallares, N.
;
Andrau, J.C.
;
Lacombe, D.
;
Van-Gils, J.
;
Fergelot, P.
;
Dubourg, C.
;
Cormier-Daire, V.
;
Rondeau, S.
;
Lecoquierre, F.
;
Saugier-Veber, P.
;
Nicolas, G.
;
Lesca, G.
;
Chatron, N.
;
Sanlaville, D.
;
Vitobello, A.
;
Faivre, L.
;
et al.
Discover
Author
9
Gecz, J.
9
Tarpey, P.
8
Bloemenkamp, K.
7
Kwee, A.
7
Porath, M.
7
Van Esch, H.
6
Edkins, S.
6
Field, M.
6
Haan, E.
5
Corbett, M.
.
next >
Subject
14
Mental Retardation, X-Linked
11
Infant, Newborn
11
Middle Aged
11
Pregnancy
10
Animals
10
Chromosomes, Human, X
10
Cohort Studies
10
Intellectual Disability
10
Phenotype
10
Syndrome
.
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Date issued
7
2020 - 2023
39
2010 - 2019
25
2000 - 2009
3
1995 - 1999