Skip navigation
Home
Browse
Communities
& Collections
Browse Items by:
Issue Date
Author
Title
Advisor
Help
Sign on to:
My DSpace
Receive email
updates
Edit Profile
Adelaide Research & Scholarship
Adelaide Research & Scholarship
Search
Search:
All collections
University Library
Adelaide Festival of Ideas
Barr Smith Press
Friends of the University of Adelaide Library
Library Publications
Internal documents (Library staff only)
Library images
Library reports and papers
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Start a new search
Add filters:
Use filters to refine the search results.
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Results 1-10 of 27 (Search time: 0.003 seconds).
previous
1
2
3
next
Item hits:
Preview
Issue Date
Title
Author(s)
2012
A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability
Huang, L.
;
Jolly, L.
;
Willis-Owen, S.
;
Gardner, A.
;
Sharma, R.
;
Douglas, E.
;
Shoubridge, C.
;
Wieczorek, D.
;
Tzschach, A.
;
Cohen, M.
;
Hackett, A.
;
Field, M.
;
Froyen, G.
;
Hu, H.
;
Haas, S.
;
Ropers, H.
;
Kalscheuer, V.
;
Corbett, M.
;
Gecz, J.
2009
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure
Bensaid, M.
;
Melko, M.
;
Bechara, E.
;
Davidovic, L.
;
Berretta, A.
;
Catania, M.
;
Gecz, J.
;
Lalli, E.
;
Bardoni, B.
2011
Identification of a microRNA that activates gene expression by repressing nonsense-mediated RNA decay
Bruno, I.
;
Karam, R.
;
Huang, L.
;
Bhardwaj, A.
;
Lou, C.
;
Shum, E.
;
Song, H.
;
Corbett, M.
;
Gifford, W.
;
Gecz, J.
;
Pfaff, S.
;
Wilkinson, M.
2006
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Hagens, O.
;
Dubos, A.
;
Abidi, F.
;
Barbi, G.
;
Van Zutven, L.
;
Hoeltzenbein, M.
;
Tommerup, N.
;
Moraine, C.
;
Fryns, J.
;
Chelly, J.
;
van Bokhoven, H.
;
Gecz, J.
;
Dollfus, H.
;
Ropers, H.
;
Schwartz, C.
;
de Cassia Stocco dos Santos, R.
;
Kalscheuer, V.
;
Hanauer, A.
2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Heron, S.
;
Grinton, B.
;
Kivity, S.
;
Afawi, Z.
;
Zuberi, S.
;
Hughes, J.
;
Pridmore, C.
;
Hodgson, B.
;
Iona, X.
;
Sadleir, L.
;
Pelekanos, J.
;
Herlenius, E.
;
Goldberg-Stern, H.
;
Bassan, H.
;
Haan, E.
;
Korczyn, A.
;
Gardner, A.
;
Corbett, M.
;
Gecz, J.
;
Thomas, P.
;
et al.
2013
ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity
Hirata, H.
;
McMichael, G.
;
Haan, E.
;
MacLennan, A.
;
Yap, T.
;
Nguyen, L.
;
Shaw, M.
;
Gecz, J.
2017
USP9X deubiquitylating enzyme maintains RAPTOR protein levels, mTORC1 signalling and proliferation in neural progenitors
Bridges, C.
;
Tan, M.
;
Premarathne, S.
;
Nanayakkara, D.
;
Bellette, B.
;
Zencak, D.
;
Domingo, D.
;
Gecz, J.
;
Murtaza, M.
;
Jolly, L.
;
Wood, S.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
2013
Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis
Stegeman, S.
;
Jolly, L.
;
Premarathne, S.
;
Gecz, J.
;
Richards, L.
;
Mackay-Sim, A.
;
Wood, S.
2013
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth
Jolly, L.
;
Homan, C.
;
Jacob, R.
;
Barry, S.
;
Gecz, J.
Discover
Author
9
Jolly, L.
6
Shoubridge, C.
5
Corbett, M.
5
Shaw, M.
4
Gardner, A.
4
Kalscheuer, V.
4
Nguyen, L.
4
Wood, S.
3
et al.
3
Haan, E.
.
next >
Subject
27
Animals
26
Humans
17
Mutation
14
Female
14
Male
11
Intellectual Disability
9
Brain
9
Molecular Sequence Data
9
Neurons
9
Pedigree
.
next >
Date issued
17
2010 - 2019
10
2002 - 2009