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 21-30 of 163 (Search time: 0.002 seconds).
previous
1
2
3
4
5
6
...
17
next
Item hits:
Preview
Issue Date
Title
Author(s)
2015
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems
Kumar, R.
;
Corbett, M.
;
Van Bon, B.
;
Gardner, A.
;
Woenig, J.
;
Jolly, L.
;
Douglas, E.
;
Friend, K.
;
Tan, C.
;
Van Esch, H.
;
Holvoet, M.
;
Raynaud, M.
;
Field, M.
;
Leffler, M.
;
Budny, B.
;
Wisniewska, M.
;
Badura-Stronka, M.
;
Latos-Bieleńska, A.
;
Batanian, J.
;
Rosenfeld, J.
;
et al.
2014
Neural correlates of impaired vision in adolescents born extremely preterm and/or extremely low birthweight
Kelly, C.E.
;
Cheong, J.L.Y.
;
Molloy, C.
;
Anderson, P.J.
;
Lee, K.J.
;
Burnett, A.C.
;
Connelly, A.
;
Doyle, L.W.
;
Thompson, D.K.
;
Ding, Z.
2016
HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
Friez, M.
;
Brooks, S.
;
Stevenson, R.
;
Field, M.
;
Basehore, M.
;
Adès, L.
;
Sebold, C.
;
Mcgee, S.
;
Saxon, S.
;
Skinner, C.
;
Craig, M.
;
Murray, L.
;
Simensen, R.
;
Yap, Y.
;
Shaw, M.
;
Gardner, A.
;
Corbett, M.
;
Kumar, R.
;
Bosshard, M.
;
Van Loon, B.
;
et al.
2015
Pharmacological management of low milk supply with domperidone: separating fact from fiction
Grzeskowiak, L.E.
;
Amir, L.H.
2015
shRNA off-target effects in vivo: impaired endogenous siRNA expression and spermatogenic defects
Song, H.
;
Bettegowda, A.
;
Oliver, D.
;
Yan, W.
;
Phan, M.
;
De Rooij, D.
;
Corbett, M.
;
Wilkinson, M.
;
White-Cooper, H.
2014
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Coe, B.
;
Witherspoon, K.
;
Rosenfeld, J.
;
van Bon, B.
;
Vulto-van Silfhout, A.
;
Bosco, P.
;
Friend, K.
;
Baker, C.
;
Buono, S.
;
Vissers, L.
;
Schuurs-Hoeijmakers, J.
;
Hoischen, A.
;
Pfundt, R.
;
Krumm, N.
;
Carvill, G.
;
Li, D.
;
Amaral, D.
;
Brown, N.
;
Lockhart, P.
;
Scheffer, I.
;
et al.
2014
Pharmacological management of low milk supply with domperidone: separating fact from fiction
Grzeskowiak, L.E.
;
Amir, L.H.
2013
Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapy
Braunlin, E.
;
Rosenfeld, H.
;
Kampmann, C.
;
Johnson, J.
;
Beck, M.
;
Giugliani, R.
;
Guffon, N.
;
Ketteridge, D.
;
Miranda, C.
;
Scarpa, M.
;
Schwartz, I.
;
Teles, E.
;
Wraith, J.
;
Barrios, P.
;
Dias da Silva, E.
;
Kurio, G.
;
Richardson, M.
;
Gildengorin, G.
;
Hopwood, J.
;
Imperiale, M.
;
et al.
2015
Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity
Brookes, E.
;
Laurent, B.
;
Õunap, K.
;
Carroll, R.
;
Moeschler, J.
;
Field, M.
;
Schwartz, C.
;
Gecz, J.
;
Shi, Y.
2012
BRIDGE Study warrants critique
Allen, D.
;
Parry, P.
;
Purssey, R.
;
Spielmans, G.
;
Jureidini, J.
;
Rosenlicht, N.
;
Healy, D.
;
Feinberg, I.
Discover
Author
22
et al.
22
Gecz, J.
20
Anderson, P.J.
17
Doyle, L.W.
13
Lee, K.J.
12
Cheong, J.L.Y.
12
Makrides, M.
9
Haan, E.
9
Thompson, D.K.
8
Burnett, A.C.
.
next >
Subject
139
Female
62
Child
45
Child, Preschool
42
Adult
40
Adolescent
37
Infant, Newborn
36
Infant
29
Animals
29
Mutation
24
Australia
.
next >
Date issued
10
2018
12
2017
12
2016
13
2015
18
2014
24
2013
26
2012
14
2011
34
2010