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
Browsing "Paediatrics publications" by Author Hackett, A.
Jump to:
0-9
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
or enter first few letters:
Sort by:
title
issue date
submit date
In order:
Ascending
Descending
Results/Page
5
10
15
20
25
30
35
40
45
50
55
60
65
70
75
80
85
90
95
100
Authors/Record:
All
1
5
10
15
20
25
30
35
40
45
50
Showing results 12 to 16 of 16
< previous
Preview
Issue Date
Title
Author(s)
2010
Mutations in the guanine nucleotide exchange factor gene IQSEC2 cause nonsyndromic intellectual disability
Shoubridge, C.
;
Tarpey, P.
;
Abidi, F.
;
Ramsden, S.
;
Rujirabanjerd, S.
;
Murphy, J.
;
Boyle, J.
;
Shaw, M.
;
Gardner, A.
;
Proos, A.
;
Puusepp, H.
;
Raymond, F.
;
Schwartz, C.
;
Stevenson, R.
;
Turner, G.
;
Field, M.
;
Walikonis, R.
;
Harvey, R.
;
Hackett, A.
;
Futreal, P.
;
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
Targeted next-generation sequencing analysis of 1,000 individuals with intellectual disability
Grozeva, D.
;
Carss, K.
;
Spasic-Boskovic, O.
;
Tejada, M.
;
Gecz, J.
;
Shaw, M.
;
Corbett, M.
;
Haan, E.
;
Thompson, E.
;
Friend, K.
;
Hussain, Z.
;
Hackett, A.
;
Field, M.
;
Renieri, A.
;
Stevenson, R.
;
Schwartz, C.
;
Floyd, J.
;
Bentham, J.
;
Cosgrove, C.
;
Keavney, B.
;
et al.
2015
THOC2 mutations implicate mRNA-export pathway in X-linked intellectual disability
Kumar, R.
;
Corbett, M.
;
Van Bon, B.
;
Woenig, J.
;
Weir, L.
;
Douglas, E.
;
Friend, K.
;
Gardner, A.
;
Shaw, M.
;
Jolly, L.
;
Tan, C.
;
Hunter, M.
;
Hackett, A.
;
Field, M.
;
Palmer, E.
;
Leffler, M.
;
Rogers, C.
;
Boyle, J.
;
Bienek, M.
;
Jensen, C.
;
et al.
2012
Transcriptome profiling of UPF3B/NMD-deficient lymphoblastoid cells from patients with various forms of intellectual disability
Nguyen, L.
;
Jolly, L.
;
Shoubridge, C.
;
Chan, W.
;
Huang, L.
;
Laumonnier, F.
;
Raynaud, M.
;
Hackett, A.
;
Field, M.
;
Rodriguez, J.
;
Srivastava, A.
;
Lee, Y.
;
Long, R.
;
Addington, A.
;
Rapaport, J.
;
Suren, S.
;
Hahn, C.
;
Gamble, J.
;
Wilkinson, M.
;
Corbett, M.
;
et al.