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 1-6 of 6 (Search time: 0.002 seconds).
previous
1
next
Item hits:
Preview
Issue Date
Title
Author(s)
2004
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
McFarland, R.
;
Kirby, D.
;
Fowler, K.
;
Ohtake, A.
;
Ryan, M.
;
Amor, D.
;
Fletcher, J.
;
Dixon, J.
;
Collins, F.
;
Turnbull, D.
;
Taylor, R.
;
Thorburn, A.
2006
Newborn screening for 3-methylcrontonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment
Stadler, S.
;
Polanetz, R.
;
Maier, E.
;
Heidenreich, S.
;
Niederer, B.
;
Mayerhofer, P.
;
Lagler, F.
;
Koch, H.
;
Santer, R.
;
Fletcher, J.
;
Ranieri, E.
;
Das, A.
;
Spiekerkotter, U.
;
Schwab, K.
;
Potzsch, S.
;
Marquardt, I.
;
Hennermann, J.
;
Knerr, I.
;
Mercimek-Mahmutoglu, S.
;
Kohlschmidt, N.
;
et al.
2002
The molecular basis of cystathionine b-synthase deficiency in Australian patients: Genotype-phenotype correlations and response to treatment
Gaustadnes, M.
;
Wilcken, B.
;
Oliveriusova, J.
;
McGill, J.
;
Fletcher, J.
;
Kraus, J.
;
Wilcken, D.
2008
Detection of treatable neonatal liver disease by expanded newborn screening
Mackay, R.
;
Bratkovic, D.
;
Couper, R.
;
Davidson, G.
;
Fahy, R.
;
Fletcher, J.
;
Ranieri, E.
2006
Screening for lysosomal storage disorders - a clinical perspective
Fletcher, J.
2007
Outcome of neonatal screening for medium-chain acyl-CoA dehydragenase deficiency in Australia: a cohort study
Wilcken, B.
;
Haas, M.
;
Joy, P.
;
Wiley, V.
;
Chaplin, M.
;
Black, C.
;
Fletcher, J.
;
McGill, J.
;
Boneh, A.
Discover
Author
2
McGill, J.
2
Ranieri, E.
2
Wilcken, B.
1
Amor, D.
1
Black, C.
1
Boneh, A.
1
Bratkovic, D.
1
Chaplin, M.
1
Collins, F.
1
Couper, R.
.
next >
Subject
6
Humans
4
Female
4
Male
4
Neonatal Screening
2
Australia
2
Blotting, Western
2
Child, Preschool
2
Cohort Studies
2
DNA Mutational Analysis
2
Genotype
.
next >
Date issued
1
2008
1
2007
2
2006
1
2004
1
2002