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 11-13 of 13 (Search time: 0.004 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
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.
2012
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
Field, M.
;
Scheffer, I.
;
Gill, D.
;
Wilson, M.
;
Christie, L.
;
Shaw, M.
;
Gardner, A.
;
Glubb, G.
;
Hobson, L.
;
Corbett, M.
;
Friend, K.
;
Willis-Owen, S.
;
Gecz, J.
2002
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation
Shaw, M.
;
Chiurazzi, P.
;
Romain, D.
;
Neri, G.
;
Gecz, J.
Discover
Author
4
Corbett, M.
3
Field, M.
2
et al.
2
Friend, K.
2
Haas, S.
2
Hackett, A.
2
Hobson, L.
2
Hu, H.
2
Kalscheuer, V.
2
Mackey, D.
.
next >
Subject
7
Humans
5
Male
3
Membrane Transport Proteins
3
Mutation
3
Pedigree
3
Transcription Factors
2
Abnormalities, Multiple
2
Amino Acid Sequence
2
Animals
2
Base Sequence
.
next >
Date issued
7
2010 - 2016
6
2002 - 2009