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
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 51-60 of 198 (Search time: 0.005 seconds).
previous
1
...
3
4
5
6
7
8
9
...
20
next
Item hits:
Preview
Issue Date
Title
Author(s)
2012
KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
Weckhuysen, S.
;
Mandelstam, S.
;
Suls, A.
;
Audenaert, D.
;
Deconinck, T.
;
Claes, L.
;
Deprez, L.
;
Smets, K.
;
Hristova, D.
;
Yordanova, I.
;
Jordanova, A.
;
Ceulemans, B.
;
Jansen, A.
;
Hasaerts, D.
;
Roelens, F.
;
Lagae, L.
;
Yendle, S.
;
Stanley, T.
;
Heron, S.
;
Mulley, J.
;
et al.
2005
Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)
Swiedler, S.
;
Beck, M.
;
Bajbouj, M.
;
Giugliani, R.
;
Schwartz, I.
;
Harmatz, P.
;
Wraith, J.
;
Roberts, J.
;
Ketteridge, D.
;
Hopwood, J.
;
Guffon, N.
;
Miranda, C.
;
Teles, E.
;
Berger, K.
;
Piscia-Nichols, C.
2006
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
Knisely, A.
;
Strautnieks, S.
;
Meier, Y.
;
Stieger, B.
;
Byrne, J.
;
Portmann, B.
;
Bull, L.
;
Pawlikowska, L.
;
Bilezikci, B.
;
Ozcay, F.
;
Laszlo, A.
;
Tiszlavicz, L.
;
Moore, L.
;
Raftos, J.
;
Arnell, H.
;
Fischler, B.
;
Nemeth, A.
;
Papadogiannakis, N.
;
Cielecka-Kuszyk, J.
;
Jankowska, I.
;
et al.
1996
Maternal Immunization With Haemophilus Influenzae Type b Polysaccharide-Tetanus Protein Conjugate Vaccine in the Gambia
Mulholland, K.
;
Suara, R.
;
Siber, G.
;
Roberton, D.
;
Jaffar, S.
;
N'jie, J.
;
Baden, L.
;
Thompson, C.
;
Anwaruddin, R.
;
Dinan, L.
;
Glezen, W.
;
Francis, N.
;
Fritzell, B.
;
Greenwood, B.
2004
Twenty-two novel mutations in the lysosomal a-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II
Hermans, M.
;
van Leenen, D.
;
Kroos, M.
;
Beesley, C.
;
Van der Ploeg, A.
;
Sakuraba, H.
;
Wevers, R.
;
Kleijer, W.
;
Mikelakakis, H.
;
Kirk, E.
;
Fletcher, J.
;
Bosshard, N.
;
Basel-Vanagaite, L.
;
Besley, G.
;
Reuser, A.
1995
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome
Ades, L.
;
Morris, L.
;
Power, R.
;
Wilson, M.
;
Haan, E.
;
Bateman, J.
;
Milewicz, D.
;
Sillence, D.
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.
1998
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Scheffer, I.
;
Phillips, H.
;
O'Brien, C.
;
Saling, M.
;
Wrennall, J.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2016
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
van Bon, B.W.M.
;
Coe, B.P.
;
Bernier, R.
;
Green, C.
;
Gerdts, J.
;
Witherspoon, K.
;
Kleefstra, T.
;
Willemsen, M.H.
;
Kumar, R.
;
Bosco, P.
;
Fichera, M.
;
Li, D.
;
Amaral, D.
;
Cristofoli, F.
;
Peeters, H.
;
Haan, E.
;
Romano, C.
;
Mefford, H.C.
;
Scheffer, I.
;
Gecz, J.
;
et al.
2013
Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome
Aoki, Y.
;
Niihori, T.
;
Banjo, T.
;
Okamoto, N.
;
Mizuno, S.
;
Kurosawa, K.
;
Ogata, T.
;
Takada, F.
;
Yano, M.
;
Ando, T.
;
Hoshika, T.
;
Barnett, C.
;
Ohashi, H.
;
Kawame, H.
;
Hasegawa, T.
;
Okutani, T.
;
Nagashima, T.
;
Hasegawa, S.
;
Funayama, R.
;
Nagashima, T.
;
et al.
Discover
Author
18
Hopwood, J.
15
Davidson, G.
14
et al.
13
Gecz, J.
13
Haan, E.
10
Gold, M.
10
Makrides, M.
10
Omari, T.
9
Anderson, P.J.
8
Baghurst, P.
.
next >
Subject
198
Humans
138
Male
135
Child
134
Female
106
Infant
82
Adolescent
57
Adult
52
Infant, Newborn
38
Australia
27
Mutation
.
next >
Date issued
5
2020 - 2023
56
2010 - 2019
95
2000 - 2009
42
1995 - 1999