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Issue Date
Title
Author(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.
2015
HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.
Jolly, L.
;
Nguyen, L.
;
Domingo, D.
;
Sun, Y.
;
Barry, S.
;
Hancarova, M.
;
Plevova, P.
;
Vlckova, M.
;
Havlovicova, M.
;
Kalscheuer, V.
;
Graziano, C.
;
Pippucci, T.
;
Bonora, E.
;
Sedlacek, Z.
;
Gecz, J.
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.
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
Efficacy and safety of once-daily esomeprazole for the treatment of gastroesophageal reflux disease in neonatal patients
Davidson, G.
;
Wenzl, T.
;
Thomson, M.
;
Omari, T.
;
Barker, P.
;
Lundborg, P.
;
Illueca, M.
2014
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation
Lee, K.
;
Mattiske, T.
;
Kitamura, K.
;
Gecz, J.
;
Shoubridge, C.
2013
Comparison of stool microbiota compositions, stool alpha1-antitrypsin and calprotectin concentrations, and diarrhoeal morbidity of Indonesian infants fed breast milk or probiotic/prebiotic-supplemented formula
Oswari, H.
;
Prayitno, L.
;
Dwipoerwantoro, P.
;
Firmansyah, A.
;
Makrides, M.
;
Lawley, B.
;
Kuhn-Sherlock, B.
;
Cleghorn, G.
;
Tannock, G.
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.
2014
The safety of seasonal influenza vaccines in Australian children in 2013
Wood, N.
;
Blyth, C.
;
Willis, G.
;
Richmond, P.
;
Gold, M.
;
Buttery, J.
;
Crawford, N.
;
Crampton, M.
;
Yin, J.
;
Chow, M.
;
Macartney, K.
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,
Discover
Author
19
Anderson, P.J.
18
et al.
18
Gecz, J.
17
Doyle, L.W.
13
Lee, K.J.
12
Cheong, J.L.Y.
12
Makrides, M.
9
Thompson, D.K.
8
Burnett, A.C.
8
Marshall, H.
.
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Humans
54
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40
Child, Preschool
35
Adolescent
35
Infant, Newborn
34
Adult
32
Infant
29
Animals
27
Mutation
22
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