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
Obstetrics and Gynaecology
Paediatrics
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 11-20 of 28 (Search time: 0.003 seconds).
previous
1
2
3
next
Item hits:
Preview
Issue Date
Title
Author(s)
2008
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome
Gilfillan, G.
;
Selmer, K.
;
Roxrud, I.
;
Smith, R.
;
Kyllerman, M.
;
Eiklid, K.
;
Kroken, M.
;
Mattingsdal, M.
;
Egeland, T.
;
Stenmark, H.
;
Sjoholm, H.
;
Server, A.
;
Samuelsson, L.
;
Christianson, A.
;
Tarpey, P.
;
Whibley, A.
;
Stratton, M.
;
Futreal, P.
;
Teague, J.
;
Edkins, S.
;
et al.
2007
Mutations in CUL4B which encodes a ubiquitin E3 ligase subunit cause an X-linked mental retardation syndrome associated with aggressive outbursts seizures relative macrocephaly central obesity hypogonadism pes cavus and tremor
Tarpey, P.
;
Raymond, F.
;
O'Meara, S.
;
Edkins, S.
;
Teague, J.
;
Butler, A.
;
Dicks, E.
;
Stevens, C.
;
Tofts, C.
;
Avis, T.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Gray, K.
;
Halliday, K.
;
Harrison, R.
;
Hills, K.
;
Jenkinson, A.
;
Jones, D.
;
Menzies, A.
;
et al.
2007
Testing the 8-syndrome structure of the child behavior checklist in 30 societies
Ivanova, M.
;
Achenbach, T.
;
Dumenci, L.
;
Rescorla, L.
;
Almqvist, F.
;
Weintraub, S.
;
Bilenberg, N.
;
Bird, H.
;
Chen, W.
;
Dobrean, A.
;
Dopfner, M.
;
Erol, N.
;
Fombonne, E.
;
Fonseca, A.
;
Frigerio, A.
;
Grietens, H.
;
Hannesdottir, H.
;
Kanbayashi, Y.
;
Lambert, M.
;
Larsson, B.
;
et al.
2007
The generalizability of the Youth Self-Report syndrome structure in 23 societies
Ivanova, M.
;
Achenbach, T.
;
Dumenci, L.
;
Bilenberg, N.
;
Broberg, A.
;
Dopfner, M.
;
Forns, M.
;
Kanbayashi, Y.
;
Leung, P.
;
Mulatu, M.
;
Oh, K.
;
Sawyer, M.
;
Steinhausen, H.
;
Metzke, C.
;
Zilber, N.
;
Verhulst, F.
;
Rescorla, L.
;
Almqvist, F.
;
Bird, H.
;
Dobrean, A.
;
et al.
2007
Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
Cavalleri, G.
;
Weale, M.
;
Shianna, K.
;
Singh, R.
;
Lynch, J.
;
Grinton, B.
;
Szoeke, C.
;
Murphy, K.
;
Kinirons, P.
;
O'Rourke, D.
;
Ge, D.
;
Depondt, C.
;
Claeys, K.
;
Pandolfo, M.
;
Gumbs, C.
;
Walley, N.
;
McNamara, J.
;
Mulley, J.
;
Linney, K.
;
Sheffield, L.
;
et al.
2009
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
Tarpey, P.
;
Smith, R.
;
Pleasance, E.
;
Whibley, A.
;
Edkins, S.
;
Hardy, C.
;
O'Meara, S.
;
Latimer, C.
;
Dicks, E.
;
Menzies, A.
;
Stephens, P.
;
Blow, M.
;
Greenman, C.
;
Xue, Y.
;
Tyler-Smith, C.
;
Thompson, D.
;
Gray, K.
;
Andrews, J.
;
Barthorpe, S.
;
Buck, G.
;
et al.
2007
An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in Exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation
Upadyaya, M.
;
Huson, S.
;
Davies, M.
;
Thomas, N.
;
Chuzhanova, N.
;
Giovannini, S.
;
Evans, D.
;
Howard, E.
;
Kerr, B.
;
Kerr, B.
;
Consoli, C.
;
Side, L.
;
Adams, D.
;
Pierpont, M.
;
Hatchen, R.
;
Barnicoat, A.
;
Li, H.
;
Wallace, P.
;
Van Biervliet, J.
;
Stevenson, D.
;
et al.
2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation
Tarpey, P.
;
Parnau, J.
;
Blow, M.
;
Woffendin, H.
;
Bignell, G.
;
Cox, C.
;
Cox, J.
;
Davies, H.
;
Edkins, S.
;
Holden, S.
;
Korny, A.
;
Mallya, U.
;
Moon, J.
;
O'Meara, S.
;
Parker, A.
;
Stephens, P.
;
Stevens, C.
;
Teague, J.
;
Donnelly, A.
;
Mangelsdorf, M.
;
et al.
2002
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
Bienvenu, T.
;
Poirier, K.
;
Friocourt, G.
;
Bahi, N.
;
Beaumont, D.
;
Fauchereau, F.
;
Jeema, L.
;
Zemni, R.
;
Vinet, M.
;
Francis, F.
;
Couvert, P.
;
Gomot, M.
;
Moraine, C.
;
van Bokhoven, H.
;
Kalscheuer, V.
;
Frints, S.
;
Gecz, J.
;
Ohzaki, K.
;
Chaabouni, H.
;
Fryns, J.
;
et al.
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.
Discover
Author
7
Tarpey, P.
6
Edkins, S.
5
O'Meara, S.
4
Barthorpe, S.
4
Buck, G.
4
Gecz, J.
4
Stevens, C.
4
Teague, J.
3
Achenbach, T.
3
Almqvist, F.
.
next >
Subject
17
Female
16
Male
13
Pedigree
12
Mutation
10
Molecular Sequence Data
9
Mental Retardation, X-Linked
7
Adult
7
Child
7
Phenotype
6
Adolescent
.
next >
Date issued
3
2009
4
2008
9
2007
3
2006
5
2004
3
2003
1
2002