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Issue Date
Title
Author(s)
1998
Construction of an ~700-kb transcript map around the Familial Mediterranean Fever locus on human chromosome 16p13.3
Centola, M.
;
Chen, X.
;
Sood, R.
;
Deng, Z.
;
Aksentijevich, I.
;
Blake, T.
;
Ricke, D.
;
Chen, X.
;
Wood, G.
;
Zaks, N.
;
Richards, N.
;
Krizman, D.
;
Mansfield, E.
;
Apostolou, S.
;
Liu, J.
;
Shafran, N.
;
Vedula, A.
;
Hamon, M.
;
Cercek, A.
;
Kahan, T.
;
et al.
2020
Genetic comorbidity between major depression and cardio-metabolic traits, stratified by age at onset of major depression
Hagenaars, S.P.
;
Coleman, J.R.I.
;
Choi, S.W.
;
Gaspar, H.
;
Adams, M.J.
;
Howard, D.M.
;
Hodgson, K.
;
Traylor, M.
;
Air, T.M.
;
Andlauer, T.F.M.
;
Arolt, V.
;
Baune, B.T.
;
Binder, E.B.
;
Blackwood, D.H.R.
;
Boomsma, D.I.
;
Campbell, A.
;
Cearns, M.
;
Czamara, D.
;
Dannlowski, U.
;
Domschke, K.
;
et al.
2018
A global cline in a colour polymorphism suggests a limited contribution of gene flow towards the recovery of a heavily exploited marine mammal
Hoffman, J.I.
;
Bauer, E.
;
Paijmans, A.J.
;
Humble, E.
;
Beckmann, L.M.
;
Kubetschek, C.
;
Christaller, F.
;
Kröcker, N.
;
Fuchs, B.
;
Moreras, A.
;
Shihlomule, Y.D.
;
Bester, M.N.
;
Cleary, A.C.
;
De Bruyn, P.J.N.
;
Forcada, J.
;
Goebel, M.E.
;
Goldsworthy, S.D.
;
Guinet, C.
;
Hoelzel, A.R.
;
Lydersen, C.
;
et al.
2017
YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction
Gabriele, M.
;
Vulto-van Silfhout, A.
;
Germain, P.
;
Vitriolo, A.
;
Kumar, R.
;
Douglas, E.
;
Haan, E.
;
Kosaki, K.
;
Takenouchi, T.
;
Rauch, A.
;
Steindl, K.
;
Frengen, E.
;
Misceo, D.
;
Pedurupillay, C.
;
Stromme, P.
;
Rosenfeld, J.
;
Shao, Y.
;
Craigen, W.
;
Schaaf, C.
;
Rodriguez-Buritica, D.
;
et al.
2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
Pham, D.H.
;
Pitman, M.R.
;
Sharma, R.
;
Jolly, L.
;
Schulz, R.
;
Gardner, A.
;
de Nys, R.
;
Heron, S.E.
;
Corbett, M.A.
;
Kothur, K.
;
Gill, D.
;
Rajagopalan, S.
;
Kolc, K.
;
Halliday, B.J.
;
Robertson, S.P.
;
Regan, B.M.
;
Kirsch, H.E.
;
Berkovic, S.F.
;
Scheffer, I.E.
;
Pitson, S.M.
;
et al.
2020
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children
Brett, G.R.
;
Martyn, M.
;
Lynch, F.
;
de Silva, M.G.
;
Ayres, S.
;
Gallacher, L.
;
Boggs, K.
;
Baxendale, A.
;
Schenscher, S.
;
King-Smith, S.
;
Fowles, L.
;
Springer, A.
;
Lunke, S.
;
Vasudevan, A.
;
Krzesinski, E.
;
Pinner, J.
;
Sandaradura, S.A.
;
Barnett, C.
;
Patel, C.
;
Wilson, M.
;
et al.
2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains
Geisheker, M.
;
Heymann, G.
;
Wang, T.
;
Coe, B.
;
Turner, T.
;
Stessman, H.
;
Hoekzema, K.
;
Kvarnung, M.
;
Shaw, M.
;
Friend, K.
;
Liebelt, J.
;
Barnett, C.
;
Thompson, E.
;
Haan, E.
;
Guo, H.
;
Anderlid, B.
;
Nordgren, A.
;
Lindstrand, A.
;
Vandeweyer, G.
;
Alberti, A.
;
et al.
2011
Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1
Bown, M.J.
;
Jones, G.T.
;
Harrison, S.C.
;
Wright, B.J.
;
Bumpstead, S.
;
Baas, A.F.
;
Gretarsdottir, S.
;
Badger, S.A.
;
Bradley, D.T.
;
Burnand, K.
;
Child, A.H.
;
Clough, R.E.
;
Cockerill, G.
;
Hafez, H.
;
Scott, D.J.A.
;
Futers, S.
;
Johnson, A.
;
Sohrabi, S.
;
Smith, A.
;
Thompson, M.M.
;
et al.
2019
Quantifying between-cohort and between-sex genetic heterogeneity in major depressive disorder
Trzaskowski, M.
;
Mehta, D.
;
Peyrot, W.J.
;
Hawkes, D.
;
Davies, D.
;
Howard, D.M.
;
Kemper, K.E.
;
Sidorenko, J.
;
Maier, R.
;
Ripke, S.
;
Mattheisen, M.
;
Baune, B.T.
;
Grabe, H.J.
;
Heath, A.C.
;
Jones, L.
;
Jones, I.
;
Madden, P.A.F.
;
McIntosh, A.M.
;
Breen, G.
;
Lewis, C.M.
;
et al.
2017
Discovery and functional prioritization of Parkinson's disease candidate genes from large-scale whole exome sequencing
Jansen, I.E.
;
Ye, H.
;
Heetveld, S.
;
Lechler, M.C.
;
Michels, H.
;
Seinstra, R.I.
;
Lubbe, S.J.
;
Drouet, V.
;
Lesage, S.
;
Majounie, E.
;
Gibbs, J.R.
;
Nalls, M.A.
;
Ryten, M.
;
Botia, J.A.
;
Vandrovcova, J.
;
Simon-Sanchez, J.
;
Castillo-Lizardo, M.
;
Rizzu, P.
;
Blauwendraat, C.
;
Chouhan, A.K.
;
et al.
Discover
Author
5
Aksentijevich, I.
5
Centola, M.
5
Mallick, S.
5
Rohland, N.
5
Wood, G.
4
Blake, T.
4
Chen, X.
4
Deng, Z.
4
Haak, W.
4
Posth, C.
.
next >
Subject
17
Humans
8
Female
7
Male
5
Amino Acid Sequence
5
Animals
5
Familial Mediterranean Fever
5
Molecular Sequence Data
4
Chromosomes, Human, Pair 16
4
Genetic Predisposition to Disease
4
Sequence Analysis, DNA
.
next >
Date issued
12
2020 - 2023
35
2010 - 2019
5
1997 - 1999