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
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 76 (Search time: 0.003 seconds).
previous
1
2
3
4
...
8
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.
2016
TBC1D24 genotype-phenotype correlation
Balestrini, S.
;
Milh, M.
;
Castiglioni, C.
;
Lüthy, K.
;
Finelli, M.
;
Verstreken, P.
;
Cardon, A.
;
Stražišar, B.
;
Holder, J.
;
Lesca, G.
;
Mancardi, M.
;
Poulat, A.
;
Repetto, G.
;
Banka, S.
;
Bilo, L.
;
Birkeland, L.
;
Bosch, F.
;
Brockmann, K.
;
Cross, J.
;
Doummar, D.
;
et al.
2023
Machine learning to predict poor school performance in paediatric survivors of intensive care: a population-based cohort study
Gilholm, P.
;
Gibbons, K.
;
Brüningk, S.
;
Klatt, J.
;
Vaithianathan, R.
;
Long, D.
;
Millar, J.
;
Tomaszewski, W.
;
Schlapbach, L.J.
;
Ganeshalingam, A.
;
Sherring, C.
;
Erickson, S.
;
Barr, S.
;
Raman, S.
;
Long, D.
;
Schlapbach, L.
;
Gibbons, K.
;
George, S.
;
Singh, P.
;
Smith, V.
;
et al.
2020
Coronavirus disease 2019 in patients with inborn errors of immunity: an international study
Meyts, I.
;
Bucciol, G.
;
Quinti, I.
;
Neven, B.
;
Fischer, A.
;
Seoane, E.
;
Lopez-Granados, E.
;
Gianelli, C.
;
Robles-Marhuenda, A.
;
Jeandel, P.Y.
;
Paillard, C.
;
Sankaran, V.G.
;
Demirdag, Y.Y.
;
Lougaris, V.
;
Aiuti, A.
;
Plebani, A.
;
Milito, C.
;
Dalm, V.A.
;
Guevara-Hoyer, K.
;
Sánchez-Ramón, S.
;
et al.
2019
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Corbett, M.A.
;
Kroes, T.
;
Veneziano, L.
;
Bennett, M.F.
;
Florian, R.
;
Schneider, A.L.
;
Coppola, A.
;
Licchetta, L.
;
Franceschetti, S.
;
Suppa, A.
;
Wenger, A.
;
Mei, D.
;
Pendziwiat, M.
;
Kaya, S.
;
Delledonne, M.
;
Straussberg, R.
;
Xumerle, L.
;
Regan, B.
;
Crompton, D.
;
van Rootselaar, A.-F.
;
et al.
2019
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission
Guo, H.
;
Li, Y.
;
Shen, L.
;
Wang, T.
;
Jia, X.
;
Liu, L.
;
Xu, T.
;
Ou, M.
;
Hoekzema, K.
;
Wu, H.
;
Gillentine, M.A.
;
Liu, C.
;
Ni, H.
;
Peng, P.
;
Zhao, R.
;
Zhang, Y.
;
Phornphutkul, C.
;
Stegmann, A.P.A.
;
Prada, C.E.
;
Hopkin, R.J.
;
et al.
2019
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
Gorman, K.M.
;
Meyer, E.
;
Grozeva, D.
;
Spinelli, E.
;
McTague, A.
;
Sanchis-Juan, A.
;
Carss, K.J.
;
Bryant, E.
;
Reich, A.
;
Schneider, A.L.
;
Pressler, R.M.
;
Simpson, M.A.
;
Debelle, G.D.
;
Wassmer, E.
;
Morton, J.
;
Sieciechowicz, D.
;
Jan-Kamsteeg, E.
;
Paciorkowski, A.R.
;
King, M.D.
;
Cross, J.H.
;
et al.
2021
Protocol for assessing if behavioural functioning of infants born <29 weeks' gestation is improved by omega-3 long-chain polyunsaturated fatty acids: follow-up of a randomised controlled trial
Gould, J.F.
;
Roberts, R.M.
;
Anderson, P.J.
;
Makrides, M.
;
Sullivan, T.R.
;
Gibson, R.A.
;
McPhee, A.J.
;
Doyle, L.W.
;
Opie, G.
;
Travadi, J.
;
Cheong, J.L.Y.
;
Davis, P.G.
;
Sharp, M.
;
Simmer, K.
;
Tan, K.
;
Morris, S.
;
Lui, K.
;
Bolisetty, S.
;
Liley, H.
;
Stack, J.
;
et al.
2021
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants
Whalen, S.
;
Shaw, M.
;
Mignot, C.
;
Héron, D.
;
Bastaraud, S.C.
;
Walti, C.C.
;
Liebelt, J.
;
Elmslie, F.
;
Yap, P.
;
Hurst, J.
;
Forsythe, E.
;
Kirmse, B.
;
Ozmore, J.
;
Spinelli, A.M.
;
Calabrese, O.
;
de Villemeur, T.B.
;
Tabet, A.C.
;
Levy, J.
;
Guet, A.
;
Kossorotoff, M.
;
et al.
2023
Transnasal Humidified Rapid Insufflation Ventilatory Exchange in children requiring emergent intubation (Kids THRIVE): a statistical analysis plan for a randomised controlled trial
George, S.
;
Gibbons, K.
;
Williams, T.
;
Humphreys, S.
;
Gelbart, B.
;
Le Marsney, R.
;
Craig, S.
;
Tingay, D.
;
Chavan, A.
;
Schibler, A.
;
Cronin, J.
;
Pearson, K.
;
Rasmussen, K.
;
Acworth, J.
;
Hickey, L.
;
Delzoppo, C.
;
Perkins, E.
;
Oberender, F.
;
Waghorn, J.
;
McCahill, C.
;
et al.
Discover
Author
7
Gecz, J.
4
Vos, T.
3
Anderson, H.
3
Andrews, K.
3
Evans, D.
3
Ezzati, M.
3
Flaxman, A.
3
George, S.
3
Hackett, A.
3
Kaakinen, M.
.
next >
Subject
20
Mutation
17
Infant, Newborn
14
Pedigree
11
Animals
11
Australia
10
Aged
10
Intellectual Disability
9
Syndrome
8
Cohort Studies
8
Genetic Predisposition to Disease
.
< previous
next >
Date issued
21
2020 - 2023
47
2010 - 2019
7
2000 - 2009
1
1997 - 1999