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
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 1-6 of 6 (Search time: 0.002 seconds).
previous
1
next
Item hits:
Preview
Issue Date
Title
Author(s)
2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region
Froyen, G.
;
Bauters, M.
;
Boyle, J.
;
Van Esch, H.
;
van Bokhoven, H.
;
Ropers, H.
;
Moraine, C.
;
Chelly, J.
;
Fryns, J.
;
Marynen, P.
;
Gecz, J.
;
Turner, G.
2007
Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans
Wu, Y.
;
Arai, A.
;
Rumbaugh, G.
;
Srivastava, A.
;
Turner, G.
;
Hayashi, T.
;
Suzuki, E.
;
Jiang, Y.
;
Zhang, L.
;
Rodriguez, J.
;
Boyle, J.
;
Tarpey, P.
;
Raymond, F.
;
Nevelsteen, J.
;
Froyen, G.
;
Stratton, M.
;
Futreal, P.
;
Gecz, J.
;
Stevenson, R.
;
Schwartz, C.
;
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.
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.
2007
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Chen, W.
;
Jensen, L.
;
Gecz, J.
;
Fryns, J.
;
Moraine, C.
;
de Brouwer, A.
;
Chelly, J.
;
Moser, B.
;
Ropers, H.
;
Kuss, A.
2007
Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor
McKenzie, O.
;
Ponte, I.
;
Mangelsdorf, M.
;
Finnis, M.
;
Colasante, G.
;
Shoubridge, C.
;
Stifani, S.
;
Gecz, J.
;
Broccoli, V.
Discover
Author
2
Boyle, J.
2
Chelly, J.
2
et al.
2
Froyen, G.
2
Fryns, J.
2
Moraine, C.
2
Ropers, H.
2
Shoubridge, C.
2
Turner, G.
2
Van Esch, H.
.
next >
Subject
5
Humans
3
Molecular Sequence Data
3
Mutation
2
Amino Acid Sequence
2
Animals
2
Base Sequence
2
Brain
2
Chromosomes, Human, X
2
Female
2
Homeodomain Proteins
.
next >