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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.
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.
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.
2006
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
Knisely, A.
;
Strautnieks, S.
;
Meier, Y.
;
Stieger, B.
;
Byrne, J.
;
Portmann, B.
;
Bull, L.
;
Pawlikowska, L.
;
Bilezikci, B.
;
Ozcay, F.
;
Laszlo, A.
;
Tiszlavicz, L.
;
Moore, L.
;
Raftos, J.
;
Arnell, H.
;
Fischler, B.
;
Nemeth, A.
;
Papadogiannakis, N.
;
Cielecka-Kuszyk, J.
;
Jankowska, I.
;
et al.
2007
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX Consortium
de Brouwer, A.
;
Yntema, H.
;
Kleefstra, T.
;
Lugtenberg, D.
;
Oudakker, A.
;
de Vries, B.
;
van Bokhoven, H.
;
Van Esch, H.
;
Frints, S.
;
Froyen, G.
;
Fryns, J.
;
Raynaud, M.
;
Moizard, M.
;
Ronce, N.
;
Bensalem, A.
;
Moraine, C.
;
Poirier, K.
;
Castelnau, L.
;
Saillour, Y.
;
Bienvenu, T.
;
et al.
2009
Induction of labour versus expectant monitoring for gestational hypertension or mild pre-eclampsia after 36 weeks' gestation (HYPITAT): a multicentre, open-label randomised controlled trial
Koopmans, C.
;
Bijlenga, D.
;
Groen, H.
;
Vijgen, S.
;
Aarnoudse, J.
;
Bekedam, D.
;
van den Berg, P.
;
de Boer, K.
;
Burggraaff, J.
;
Bloemenkamp, K.
;
Drogtrop, A.
;
Franx, A.
;
de Groot, C.
;
Huisjes, A.
;
Kwee, A.
;
van Loon, A.
;
Lub, A.
;
Papatsonis, D.
;
van der Post, J.
;
Roumen, F.
;
et al.
2009
Analysis of families with Lynch syndrome complicated by advanced serrated neoplasia: the importance of pathology review and pedigree analysis
Walsh, M.
;
Buchanan, D.
;
Walters, R.
;
Roberts, A.
;
Arnold, S.
;
McKeone, D.
;
Clendenning, M.
;
Ruszkiewicz, A.
;
Jenkins, M.
;
Hopper, J.
;
Goldblatt, J.
;
George, J.
;
Suthers, G.
;
Phillips, K.
;
Young, G.
;
Macrae, F.
;
Drini, M.
;
Woods, M.
;
Parry, S.
;
Jass, J.
;
et al.
2008
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Froyen, G.
;
Corbett, M.
;
Vandewalle, J.
;
Jarvela, I.
;
Lawrence, O.
;
Meldrum, C.
;
Bauters, M.
;
Govaerts, K.
;
Vandeleur, L.
;
Van Esch, H.
;
Chelly, J.
;
Sanlaville, D.
;
van Bokhoven, H.
;
Ropers, H.
;
Laumonnier, F.
;
Ranieri, E.
;
Schwartz, C.
;
Abidi, F.
;
Tarpey, P.
;
Futreal, P.
;
et al.
2008
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis
Berkovic, S.
;
Dibbens, L.
;
Oshlack, A.
;
Silver, J.
;
Katerelos, M.
;
Vears, D.
;
Lullmann-Rauch, R.
;
Blanz, J.
;
Zhang, K.
;
Stankovich, J.
;
Kalnins, R.
;
Dowling, J.
;
Andermann, E.
;
Andermann, F.
;
Faldini, E.
;
D'Hooge, R.
;
Vadlamudi, L.
;
Macdonnell, R.
;
Hodgson, B.
;
Bayly, M.
;
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
6
Adolescent
6
Amino Acid Sequence
6
Syndrome
5
Child, Preschool
5
Chromosomes, Human, X
5
DNA Mutational Analysis
5
Genotype
4
Base Sequence
4
Cohort Studies
4
Exons
.
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