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Issue Date
Title
Author(s)
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.
2010
Immunogenicity of a monovalent 2009 influenza A(H1N1) vaccine in infants and children: A randomized trial
Nolan, T.
;
McVernon, J.
;
Skeljo, M.
;
Richmond, P.
;
Wadia, U.
;
Lambert, S.
;
Nissen, M.
;
Marshall, H.
;
Booy, R.
;
Heron, L.
;
Hartel, G.
;
Lai, M.
;
Basser, R.
;
Gittleson, C.
;
Greenberg, M.
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.
2013
Does metformin improve vascular health in children with Type 1 diabetes? Protocol for a one year, double blind, randomised, placebo controlled trial
Anderson, J.
;
Pena Vargas, A.
;
Sullivan, T.
;
Gent, R.
;
D'Arcy, B.
;
Olds, T.
;
Coppin, B.
;
Couper, J.
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
Effect of iodine supplementation in pregnancy on child development and other clinical outcomes: a systematic review of randomized controlled trials
Zhou, S.
;
Anderson, A.
;
Gibson, R.
;
Makrides, M.
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.
2010
Testicular and paratesticular pathology in children: a 12-year histopathological review
Marulaiah, M.
;
Gilhotra, A.
;
Moore, L.
;
Boucaut, H.
;
Goh, D.
Discover
Author
11
Gecz, J.
8
Anderson, P.J.
8
et al.
7
Doyle, L.W.
7
Scheffer, I.
6
Revesz, T.
5
Dibbens, L.
5
Lee, K.J.
4
Berkovic, S.
4
Cheong, J.L.Y.
.
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Subject
69
Humans
55
Male
50
Female
32
Child, Preschool
29
Adolescent
19
Adult
16
Infant
13
Infant, Newborn
12
Mutation
10
Australia
.
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Date issued
5
2017
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2016
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2015
2
2014
12
2013
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2012
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2011
21
2010