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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.
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.
2021
Implementing gene curation for hereditary cancer susceptibility in Australia: achieving consensus on genes with clinical utility
Tudini, E.
;
Davidson, A.L.
;
Dressel, U.
;
Andrews, L.
;
Antill, Y.
;
Crook, A.
;
Field, M.
;
Gattas, M.
;
Harris, R.
;
Kirk, J.
;
Pachter, N.
;
Salmon, L.
;
Susman, R.
;
Townshend, S.
;
Trainer, A.H.
;
Tucker, K.M.
;
Mitchell, G.
;
James, P.A.
;
Ward, R.L.
;
Mar Fan, H.
;
et al.
2018
Maternal smoking during pregnancy and offspring overweight: is there a dose-response relationship? An individual patient data meta-analysis
Albers, L.
;
Sobotzki, C.
;
Kuß, O.
;
Ajslev, T.
;
Batista, R.
;
Bettiol, H.
;
Brabin, B.
;
Buka, S.
;
Cardoso, V.
;
Clifton, V.
;
Devereux, G.
;
Gilman, S.
;
Grzeskowiak, L.
;
Heinrich, J.
;
Hummel, S.
;
Jacobsen, G.
;
Jones, G.
;
Koshy, G.
;
Morgen, C.
;
Oken, E.
;
et al.
2015
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis
Ramos-Brossier, M.
;
Montani, C.
;
Lebrun, N.
;
Gritti, L.
;
Martin, C.
;
Seminatore-Nole, C.
;
Toussaint, A.
;
Moreno, S.
;
Poirier, K.
;
Dorseuil, O.
;
Chelly, J.
;
Hackett, A.
;
Gecz, J.
;
Bieth, E.
;
Faudet, A.
;
Heron, D.
;
Kooy, R.
;
Loeys, B.
;
Humeau, Y.
;
Sala, C.
;
et al.
2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Kumar, R.
;
Corbett, M.
;
Van Bon, B.
;
Gardner, A.
;
Woenig, J.
;
Jolly, L.
;
Douglas, E.
;
Friend, K.
;
Tan, C.
;
Van Esch, H.
;
Holvoet, M.
;
Raynaud, M.
;
Field, M.
;
Leffler, M.
;
Budny, B.
;
Wisniewska, M.
;
Badura-Stronka, M.
;
Latos-Bieleńska, A.
;
Batanian, J.
;
Rosenfeld, J.
;
et al.
Discover
Author
8
Gecz, J.
8
Tarpey, P.
6
Edkins, S.
6
Field, M.
5
O'Meara, S.
5
Van Esch, H.
4
Barthorpe, S.
4
Buck, G.
4
Corbett, M.
4
Gardner, A.
.
next >
Subject
43
Humans
37
Female
22
Mutation
19
Pedigree
18
Child
14
Adult
13
Mental Retardation, X-Linked
12
Child, Preschool
11
Adolescent
9
Molecular Sequence Data
.
next >
Date issued
3
2020 - 2022
23
2010 - 2019
16
2000 - 2009
1
1997 - 1999