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Issue Date
Title
Author(s)
2018
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency
Jansen, S.
;
Hoischen, A.
;
Coe, B.
;
Carvill, G.
;
van Esch, H.
;
Bosch, D.
;
Andersen, U.
;
Baker, C.
;
Bauters, M.
;
Bernier, R.
;
van Bon, B.
;
Claahsen-van der Grinten, H.
;
Gecz, J.
;
Gilissen, C.
;
Grillo, L.
;
Hackett, A.
;
Kleefstra, T.
;
Koolen, D.
;
Kvarnung, M.
;
Larsen, M.
;
et al.
2017
A recurrent de novo nonsense variant in ZSWIM6 results in severe intellectual disability without frontonasal or limb malformations
Palmer, E.E.
;
Kumar, R.
;
Gordon, C.T.
;
Shaw, M.
;
Hubert, L.
;
Carroll, R.
;
Rio, M.
;
Murray, L.
;
Leffler, M.
;
Dudding-Byth, T.
;
Oufadem, M.
;
Lalani, S.R.
;
Lewis, A.M.
;
Xia, F.
;
Tam, A.
;
Webster, R.
;
Brammah, S.
;
Filippini, F.
;
Pollard, J.
;
Spies, J.
;
et al.
2016
A method to exploit the structure of genetic ancestry space to enhance case-control studies
Bodea, C.A.
;
Neale, B.M.
;
Ripke, S.
;
Barclay, M.
;
Peyrin-Biroulet, L.
;
Chamaillard, M.
;
Colombel, J.F.
;
Cottone, M.
;
Croft, A.
;
D'Incà, R.
;
Halfvarson, J.
;
Hanigan, K.
;
Henderson, P.
;
Hugot, J.P.
;
Karban, A.
;
Kennedy, N.A.
;
Khan, M.A.
;
Lémann, M.
;
Levine, A.
;
Massey, D.
;
et al.
2017
Disruption of the homeodomain transcription factor orthopedia homeobox (Otp) is associated with obesity and anxiety
Moir, L.
;
Bochukova, E.G.
;
Dumbell, R.
;
Banks, G.
;
Bains, R.S.
;
Nolan, P.M.
;
Scudamore, C.
;
Simon, M.
;
Watson, K.A.
;
Keogh, J.
;
Henning, E.
;
Hendricks, A.
;
O'Rahilly, S.
;
Barroso, I.
;
Sullivan, A.E.
;
Bersten, D.C.
;
Whitelaw, M.L.
;
Kirsch, S.
;
Bentley, E.
;
Farooqi, I.S.
;
et al.
2015
A meta-analysis of gene expression signatures of blood pressure and hypertension
Huan, T.
;
Esko, T.
;
Peters, M.
;
Pilling, L.
;
Schramm, K.
;
Schurmann, C.
;
Chen, B.
;
Liu, C.
;
Joehanes, R.
;
Johnson, A.
;
Yao, C.
;
Ying, S.
;
Courchesne, P.
;
Milani, L.
;
Raghavachari, N.
;
Wang, R.
;
Liu, P.
;
Reinmaa, E.
;
Dehghan, A.
;
Hofman, A.
;
et al.
;
McCarthy, M.
2014
Regulation of the hepatitis C virus RNA replicase by endogenous lipid peroxidation
Yamane, D.
;
McGivern, D.
;
Wauthier, E.
;
Yi, M.
;
Madden, V.
;
Welsch, C.
;
Antes, I.
;
Wen, Y.
;
Chugh, P.
;
McGee, C.
;
Widmann, D.
;
Misumi, I.
;
Bandyopadhyay, S.
;
Kim, S.
;
Shimakami, T.
;
Oikawa, T.
;
Whitmire, J.
;
Heise, M.
;
Dittmer, D.
;
Kao, C.
;
et al.
1997
Construction of a 1-Mb restriction-mapped cosmid contig containing the candidate region for the Familial Mediterranean Fever Locus (MEFV) on chromosome 16p13.3
Sood, R.
;
Blake, T.
;
Aksentijevich, I.
;
Wood, G.
;
Chen, X.
;
Gardner, D.
;
Shelton, D.
;
Mangelsdorf, M.
;
Orsborn, A.
;
Pras, E.
;
Balow, J.
;
Centola, M.
;
Deng, Z.
;
Zaks, N.
;
Chen, X.
;
Richards, N.
;
Fischel-Ghodsian, N.
;
Rotter, J.
;
Pras, M.
;
Shohat, M.
;
et al.
2014
Genome-wide association study of urinary albumin excretion rate in patients with type 1 diabetes
Sandholm, N.
;
Forsblom, C.
;
Mäkinen, V.
;
McKnight, A.
;
Österholm, A.
;
He, B.
;
Harjutsalo, V.
;
Lithovius, R.
;
Gordin, D.
;
Parkkonen, M.
;
Saraheimo, M.
;
Thorn, L.
;
Tolonen, N.
;
Wadén, J.
;
Tuomilehto, J.
;
Lajer, M.
;
Ahlqvist, E.
;
Möllsten, A.
;
Marcovecchio, M.
;
Cooper, J.
;
et al.
2016
Clinical and molecular analyses of Beckwith–Wiedemann syndrome: comparison between spontaneous conception and assisted reproduction techniques
Tenorio, J.
;
Romanelli, V.
;
Martin-Trujillo, A.
;
Fernández, G.M.
;
Segovia, M.
;
Perandones, C.
;
Pérez Jurado, L.A.
;
Esteller, M.
;
Fraga, M.
;
Arias, P.
;
Gordo, G.
;
Dapía, I.
;
Mena, R.
;
Palomares, M.
;
Pérez de Nanclares, G.
;
Nevado, J.
;
García-Miñaur, S.
;
Santos-Simarro, F.
;
Martinez-Glez, V.
;
Vallespín, E.
;
et al.
;
Hennekam, R.C.M.
;
Biesecker, L.G.
2017
The case for adopting the "species complex" nomenclature for the etiologic agents of cryptococcosis
Kwon-Chung, K.
;
Bennett, J.
;
Wickes, B.
;
Meyer, W.
;
Cuomo, C.
;
Wollenburg, K.
;
Bicanic, T.
;
Castaneda, E.
;
Chang, Y.
;
Chen, J.
;
Cogliati, M.
;
Dromer, F.
;
Ellis, D.
;
Filler, S.
;
Fisher, M.
;
Harrison, T.
;
Holland, S.
;
Kohno, S.
;
Kronstad, J.
;
Lazera, M.
;
et al.
;
Lorenz, M.
Discover
Author
5
Aksentijevich, I.
5
Centola, M.
5
Mallick, S.
5
Rohland, N.
5
Wood, G.
4
Adelson, D.
4
Blake, T.
4
Chen, X.
4
Comerford, I.
4
Deng, Z.
.
next >
Subject
48
Humans
26
Animals
22
Female
22
Male
15
Mice
11
Mutation
10
Molecular Sequence Data
9
Adult
8
Genetic Predisposition to Disease
8
Mice, Inbred C57BL
.
next >
Date issued
28
2020 - 2023
79
2010 - 2019
15
2000 - 2009
5
1997 - 1999