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
Schools and Disciplines
School of Paediatrics & Reproductive Health
Paediatrics
Paediatrics publications
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 41-50 of 67 (Search time: 0.006 seconds).
previous
1
...
2
3
4
5
6
7
next
Item hits:
Preview
Issue Date
Title
Author(s)
2006
Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions
Sharma, S.
;
Ang, S.
;
Shaw, M.
;
Mackey, D.
;
Gecz, J.
;
McAvoy, J.
;
Craig, 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.
2003
Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
Burdon, K.
;
McKay, J.
;
Sale, M.
;
Russell-Eggitt, I.
;
Mackey, D.
;
Wirth, G.
;
Elder, J.
;
Nicoll, A.
;
Clarke, M.
;
FitzGerald, L.
;
Stankovich, J.
;
Shaw, M.
;
Sharma, S.
;
Gajovic, S.
;
Gruss, P.
;
Ross, S.
;
Thomas, P.
;
Voss, A.
;
Thomas, T.
;
Gecz, J.
;
et al.
2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor
Ali, A.
;
Christie, P.
;
Grigorieva, I.
;
Harding, B.
;
Van Esch, H.
;
Ahmed, S.
;
Bitner-Glindzicz, M.
;
Blind, E.
;
Bloch, C.
;
Christin, P.
;
Clayton, P.
;
Gecz, J.
;
Gilbert-Dussardier, B.
;
Guillen-Navarro, E.
;
Hackett, A.
;
Halac, I.
;
Hendy, G.
;
Lalloo, F.
;
Mache, C.
;
Mughal, Z.
;
et al.
2009
The genetic landscape of intellectual disability arising from chromosome X
Gecz, J.
;
Shoubridge, C.
;
Corbett, M.
2008
Exclusion of biglycan mutations in a cohort of patients with neuromuscular disorders
Peat, R.
;
Gecz, J.
;
Fallon, J.
;
Tarpey, P.
;
Smith, R.
;
Futreal, P.
;
Stratton, M.
;
Lamande, S.
;
Yang, N.
;
North, K.
2003
Nonsyndromic x-linked mental retardation: where are the missing mutations?
Ropers, H.
;
Hoeltzenbein, M.
;
Kalscheuer, V.
;
Yntema, H.
;
Hamel, B.
;
Fryns, J.
;
Chelly, J.
;
Partington, M.
;
Gecz, J.
;
Moraine, C.
2007
Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
Shoubridge, C.
;
Cloosterman, D.
;
Parkinson-Lawrence, E.
;
Brooks, D.
;
Gecz, J.
2002
Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
Stromme, P.
;
Mangelsdorf, M.
;
Scheffer, I.
;
Gecz, J.
2003
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
Savarirayan, R.
;
Thompson, E.
;
Gecz, J.
Discover
Author
11
Fryns, J.
10
Moraine, C.
10
Turner, G.
9
Partington, M.
9
Ropers, H.
8
Chelly, J.
8
Kalscheuer, V.
7
Lower, K.
7
Schwartz, C.
7
Van Esch, H.
.
next >
Subject
51
Humans
29
Male
29
Mutation
20
Female
20
Pedigree
19
Molecular Sequence Data
18
Chromosomes, Human, X
16
Intellectual Disability
16
Mental Retardation, X-Linked
15
Transcription Factors
.
next >
Date issued
9
2009
7
2008
6
2007
6
2006
5
2005
11
2004
10
2003
6
2002
3
2001
4
2000
.
next >