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 1-7 of 7 (Search time: 0.004 seconds).
previous
1
next
Item hits:
Preview
Issue Date
Title
Author(s)
1996
Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow
Fairbairn, L.
;
Lashford, L.
;
Spooncer, E.
;
McDermott, R.
;
Lebens, G.
;
Arrand, J.
;
Arrand, J.
;
Bellantuono, I.
;
Holt, R.
;
Hatton, C.
;
Cooper, A.
;
Besley, G.
;
Wraith, J.
;
Anson, D.
;
Hopwood, J.
;
Dexter, T.
2000
FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations
Gecz, J.
2007
Mutations in ZDHHC9, which encodes a palmitoyltransferase of NRAS and HRAS, cause X-linked mental retardation associated with a marfanoid habitus
Raymond, F.
;
Tarpey, P.
;
Edkins, S.
;
Tofts, C.
;
O'Meara, S.
;
Teague, J.
;
Butler, A.
;
Stevens, C.
;
Barthorpe, S.
;
Buck, G.
;
Cole, J.
;
Dicks, E.
;
Gray, K.
;
Harrison, R.
;
Hills, K.
;
Hinton, J.
;
Jones, D.
;
Menzies, A.
;
Perry, J.
;
Raine, K.
;
et al.
2009
In Vitro Differentiation of Human Calvarial Suture Derived Cells With and Without Dexamethasione Does Not Induce In Vivo-Like Expression
Coussens, A.
;
Hughes, I.
;
Morris, C.
;
Powell, B.
;
Anderson, P.
2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Lynch, S.
;
Nguyen, L.
;
Ng, L.
;
Waldron, M.
;
McDonald, D.
;
Gecz, J.
2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda
Tiller, G.
;
Hannig, V.
;
Dozier, D.
;
Carrel, L.
;
Trevarthen, K.
;
Wilcox, W.
;
Mundlos, S.
;
Haines, J.
;
Gedeon, A.
;
Gecz, J.
1999
Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
Weber, B.
;
Guo, X.H.
;
Kleijer, W.
;
van de Kamp, J.
;
Poorthuis, B.
;
Hopwood, J.
Discover
Author
3
Gecz, J.
2
Hopwood, J.
1
Anderson, P.
1
Anson, D.
1
Arrand, J.
1
Barthorpe, S.
1
Bellantuono, I.
1
Besley, G.
1
Buck, G.
1
Butler, A.
.
next >
Subject
5
Male
4
Molecular Sequence Data
4
Mutation
3
Cells, Cultured
3
DNA Primers
2
DNA Mutational Analysis
2
Exons
2
Female
2
Gene Expression
2
Genetic Linkage
.
next >
Date issued
1
2010 - 2012
4
2000 - 2009
2
1996 - 1999