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Issue Date
Title
Author(s)
2013
Synthetic versus plaster of Paris casts in the treatment of fractures of the forearm in children: a randomised trial of clinical outcomes and patient satisfaction
Inglis, M.
;
McClelland, B.
;
Sutherland, L.
;
Cundy, P.
2013
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp, J.
;
Bratkovic, D.
;
Poplawski, N.
2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
Scheffer, I.
;
Heron, S.
;
Regan, B.
;
Mandelstam, S.
;
Crompton, D.
;
Hodgson, B.
;
Licchetta, L.
;
Provini, F.
;
Bisulli, F.
;
Vadlamudi, L.
;
Gecz, J.
;
Connelly, A.
;
Tinuper, P.
;
Ricos, M.
;
Berkovic, S.
;
Dibbens, L.
2018
A Type 1 Diabetes Genetic Risk Score Predicts Progression of Islet Autoimmunity and Development of Type 1 Diabetes in Individuals at Risk
Redondo, M.J.
;
Geyer, S.
;
Steck, A.K.
;
Sharp, S.
;
Wentworth, J.M.
;
Weedon, M.N.
;
Antinozzi, P.
;
Sosenko, J.
;
Atkinson, M.
;
Pugliese, A.
;
Oram, R.A.
;
Type 1 Diabetes TrialNet Study Group,
2010
Testicular and paratesticular pathology in children: a 12-year histopathological review
Marulaiah, M.
;
Gilhotra, A.
;
Moore, L.
;
Boucaut, H.
;
Goh, D.
2010
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase
Harmatz, P.
;
Yu, Z.
;
Giugliani, R.
;
Schwartz, I.
;
Guffon, N.
;
Teles, E.
;
Miranda, C.
;
Wraith, J.
;
Beck, M.
;
Arash, L.
;
Scarpa, M.
;
Ketteridge, D.
;
Hopwood, J.
;
Plecko, B.
;
Steiner, R.
;
Whitley, C.
;
Kaplan, P.
;
Swiedler, S.
;
Hardy, K.
;
Berger, K.
;
et al.
2010
Chemokine/Chemokine receptor interactions in extramedullary leukaemia of the skin in childhood AML: Differential roles for CCR2, CCR5, CXCR4 and CXCR7
Faaij, C.
;
Willemze, A.
;
Revesz, T.
;
Balzarolo, M.
;
Tensen, C.
;
Hoogeboom, M.
;
Vermeer, M.
;
van Wering, E.
;
Zwaan, C.
;
Kaspers, G.
;
Story, C.
;
van Halteren, A.
;
Vossen, J.
;
Egeler, R.
;
van Tol, M.
;
Annels, N.
2013
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX
Poeta, L.
;
Fusco, F.
;
Drongitis, D.
;
Shoubridge, C.
;
Manganelli, G.
;
Filosa, S.
;
Paciolla, M.
;
Courtney, M.
;
Collombat, P.
;
Lioi, M.
;
Gecz, J.
;
Ursini, M.
;
Miano, M.
2010
Cryogenic burns from intentional use of aerosol spray in children: An emerging phenomenon
Stefanutti, G.
;
Yee, J.
;
Sparnon, A.
2012
Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay
Lynch, S.
;
Nguyen, L.
;
Ng, L.
;
Waldron, M.
;
McDonald, D.
;
Gecz, J.
Discover
Author
12
Anderson, P.J.
11
Doyle, L.W.
11
Gecz, J.
10
et al.
7
Cheong, J.L.Y.
7
Scheffer, I.
6
Lee, K.J.
6
Revesz, T.
5
Dibbens, L.
4
Berkovic, S.
.
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Subject
80
Humans
65
Male
60
Female
40
Child, Preschool
33
Adolescent
22
Adult
22
Infant
20
Infant, Newborn
13
Australia
13
Mutation
.
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Date issued
3
2019
8
2018
5
2017
7
2016
3
2015
2
2014
12
2013
11
2012
9
2011
21
2010
.
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