Adelaide Research & Scholarship: Search

Search

Results 11-20 of 56 (Search time: 0.002 seconds).

previous
1
2
3
4
5
...
6
next

Item hits:

Preview	Issue Date	Title	Author(s)
	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.
	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	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.
	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,
	2015	Interchromosomal insertional translocation at Xq26.3 alters SOX3 expression in an individual with XX male sex reversal	Haines, B.; Hughes, J.; Corbett, M.; Shaw, M.; Innes, J.; Patel, L.; Gecz, J.; Clayton-Smith, J.; Thomas, P.
	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.