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
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 10 (Search time: 0.031 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.
2002
Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation
Turner, G.
;
Partington, M.
;
Kerr, B.
;
Mangelsdorf, M.
;
Gecz, J.
2008
Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation
Molinari, F.
;
Foulquier, F.
;
Tarpey, P.
;
Morelle, W.
;
Boissel, S.
;
Teague, J.
;
Edkins, S.
;
Futreal, P.
;
Stratton, M.
;
Turner, G.
;
Matthijs, G.
;
Gecz, J.
;
Munnich, A.
;
Colleaux, L.
2004
1024C>T (R342X) is a recurrent RHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family
Lower, K.
;
Solders, G.
;
Bondeson, M.
;
Nelson, J.
;
Brun, A.
;
Crawford, J.
;
Malm, G.
;
Borjeson, M.
;
Turner, G.
;
Partington, M.
;
Gecz, J.
1997
FMR2 expression in families with FRAXE mental retardation
Gecz, J.
;
Oostra, B.
;
Hockey, A.
;
Carbonell, P.
;
Turner, G.
;
Haan, E.
;
Sutherland, G.
;
Mulley, J.
2002
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy
Stromme, P.
;
Mangelsdorf, M.
;
Shaw, M.
;
Lower, K.
;
Lewis, S.
;
Bruyere, H.
;
Lutcherath, V.
;
Gedeon, A.
;
Wallace, R.
;
Scheffer, I.
;
Turner, G.
;
Partington, M.
;
Frints, S.
;
Fryns, J.
;
Sutherland, G.
;
Mulley, J.
;
Gecz, J.
2007
Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH
Kousoulidou, L.
;
Parkel, S.
;
Zilina, O.
;
Palta, P.
;
Puusepp, H.
;
Remm, M.
;
Turner, G.
;
Boyle, J.
;
van Bokhoven, H.
;
de Brouwer, A.
;
Van Esch, H.
;
Froyen, G.
;
Ropers, H.
;
Chelly, J.
;
Moraine, C.
;
Gecz, J.
;
Kurg, A.
;
Patsalis, P.
2008
Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation
Turner, G.
;
Boyle, J.
;
Partington, M.
;
Kerr, B.
;
Raymond, F.
;
Gecz, J.
2010
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families
Hynes, K.
;
Tarpey, P.
;
Dibbens, L.
;
Bayly, M.
;
Berkovic, S.
;
Smith, R.
;
Al Raisi, Z.
;
Turner, S.
;
Brown, N.
;
Desai, T.
;
Haan, E.
;
Turner, G.
;
Christodoulou, J.
;
Leonard, H.
;
Gill, D.
;
Stratton, M.
;
Gecz, J.
;
Scheffer, I.
2016
A non-coding variant in the 5' UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
Kumar, R.
;
Ha, T.
;
Pham, D.
;
Shaw, M.
;
Mangelsdorf, M.
;
Friend, K.L.
;
Hobson, L.
;
Turner, G.
;
Boyle, J.
;
Field, M.
;
Hackett, A.
;
Corbett, M.
;
Gecz, J.
Discover
Author
4
Boyle, J.
4
Partington, M.
3
Mangelsdorf, M.
2
Chelly, J.
2
Froyen, G.
2
Fryns, J.
2
Haan, E.
2
Kerr, B.
2
Lower, K.
2
Moraine, C.
.
next >
Subject
10
Humans
9
Male
7
Pedigree
6
Mental Retardation, X-Linked
5
Adult
5
Mutation
4
Chromosomes, Human, X
4
Intellectual Disability
4
Molecular Sequence Data
3
Amino Acid Sequence
.
next >
Date issued
2
2010 - 2016
7
2000 - 2009
1
1997 - 1999