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
Australian School of Petroleum
Business School
Elder Conservatorium of Music
Law School
School of Agriculture, Food and Wine
School of Animal and Veterinary Sciences
School of Architecture and Built Environment
School of Chemical Engineering
School of Chemistry and Physics
School of Civil, Environmental and Mining Engineering
School of Computer Science
School of Dentistry
School of Earth and Environmental Sciences
School of Economics
School of Education
School of Electrical and Electronic Engineering
School of History and Politics
School of Humanities
School of Mathematical Sciences
School of Mechanical Engineering
School of Medical Sciences
School of Medicine
School of Molecular and Biomedical Science
School of Nursing
School of Paediatrics & Reproductive Health
School of Population Health & Clinical Practice
School of Psychology
School of Social Sciences
School of Translational Health Science
Research Outputs
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 20 (Search time: 0.002 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
Muenke, M.
;
Gripp, K.
;
McDonald-McGinn, D.
;
Gaudenz, K.
;
Whitaker, L.
;
Bartlett, S.
;
Markowitz, R.
;
Robin, N.
;
Nwokoro, N.
;
Mulvihill, J.
;
Losken, H.
;
Mulliken, J.
;
Guttmacher, A.
;
Wilroy, R.
;
Clarke, L.
;
Hollway, G.
;
Ades, L.
;
Haan, E.
;
Mulley, J.
;
Cohen, M.
;
et al.
1998
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.
Donnelly, A.
;
Haan, E.
;
Manson, J.
;
Mulley, J.
1997
High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome
Fang, Y.
;
Bain, S.
;
Haan, E.
;
Eyre, H.
;
MacDonald, M.
;
Wright, T.
;
Altherr, M.
;
Riess, O.
;
Sutherland, G.
;
Callen, D.
1999
Homozygotes for FRA16B are normal
Hocking, T.
;
Feichtinger, W.
;
Schmid, M.
;
Haan, E.
;
Baker, E.
;
Sutherland, G.
1996
Clinicopathologic features of congenital aneurysms of the great vessels
Ades, L.
;
Knight, W.
;
Byard, R.
;
Bateman, J.
;
Esquivel, J.
;
Mee, R.
;
Haan, E.
;
Milewicz, D.
1996
Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome
Ades, L.
;
Haan, E.
;
Colley, A.
;
Richards, R.
1996
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)
Gedeon, A.
;
Haan, E.
;
Mulley, J.
1999
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells
Hussey, N.
;
Donggui, H.
;
Froiland, D.
;
Hussey, D.
;
Haan, E.
;
Matthews, C.
;
Craig, J.
1998
Autosomal dominant Klippel-Feil anomaly with cleft palate
Thompson, E.
;
Haan, E.
;
Sheffield, L.
1998
SHORT syndrome: distinctive radiographic features
Haan, E.
;
Morris, L.
Discover
Author
5
Mulley, J.
4
Ades, L.
4
Sutherland, G.
3
Gedeon, A.
2
Baker, E.
2
Carbonell, P.
2
Chan, A.
2
Donnelly, A.
2
Hockey, A.
2
Richards, R.
.
next >
Subject
20
Humans
18
Female
8
Adult
8
Child
6
Pedigree
5
Abnormalities, Multiple
5
Chromosome Mapping
5
Exons
5
Molecular Sequence Data
5
Syndrome
.
next >
Date issued
3
1999
5
1998
7
1997
3
1996
2
1995