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Results 41-50 of 142 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2016HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing studyFriez, 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.
2023Randomized Trial of BCG Vaccine to Protect against Covid-19 in Health Care WorkersPittet, L.F.; Messina, N.L.; Orsini, F.; Moore, C.L.; Abruzzo, V.; Barry, S.; Bonnici, R.; Bonten, M.; Campbell, J.; Croda, J.; Dalcolmo, M.; Gardiner, K.; Gell, G.; Germano, S.; Gomes-Silva, A.; Goodall, C.; Gwee, A.; Jamieson, T.; Jardim, B.; Kollmann, T.R.; et al.
2015Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signalingSnijders Blok, L.; Madsen, E.; Juusola, J.; Gilissen, C.; Baralle, D.; Reijnders, M.; Venselaar, H.; Helsmoortel, C.; Cho, M.; Hoischen, A.; Vissers, L.; Koemans, T.; Wissink-Lindhout, W.; Eichler, E.; Romano, C.; Van Esch, H.; Stumpel, C.; Vreeburg, M.; Smeets, E.; Oberndorff, K.; et al.
2015High incidence of Noonan Syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: genotype-phenotype correlationRojnueangnit, K.; Xie, J.; Gomes, A.; Sharp, A.; Callens, T.; Chen, Y.; Liu, Y.; Cochran, M.; Abbott, M.; Atkin, J.; Babovic-Vuksanovic, D.; Barnett, C.; Crenshaw, M.; Bartholomew, D.; Basel, L.; Bellus, G.; Ben-Shachar, S.; Bialer, M.; Bick, D.; Blumberg, B.; et al.
2012Identification of cases with adverse neonatal outcome monitored by cardiotocography versus ST analysis: secondary analysis of a randomized trialWesterhuis, M.; Porath, M.; Becker, J.; Van den Akker, E.; van Beek, E.; van Dessel, H.; Drogtrop, A.; van Geijn, H.; Graziosi, G.; Groenendaal, F.; van Lith, J.; Mol, B.; Moons, K.; Nijhuis, J.; Oei, S.; Oosterbaan, H.; Rijnders, R.; Schuitemaker, N.; Wijnberger, L.; Willekes, C.; et al.
2021Prospective characterisation of SARS-CoV-2 infections among children presenting to tertiary paediatric hospitals across Australia in 2020: a national cohort studyWurzel, D.; McMinn, A.; Hoq, M.; Blyth, C.C.; Burgner, D.; Tosif, S.; Buttery, J.; Carr, J.; Clark, J.E.; Cheng, A.C.; Dinsmore, N.; Francis, J.R.; Kynaston, A.; Lucas, R.; Marshall, H.; McMullan, B.; Singh-Grewal, D.; Wood, N.; Macartney, K.; Britton, P.N.; et al.
2022Longitudinal audit of assessment and pharmaceutical intervention for cardiovascular risk in the Australasian Diabetes Data NetworkRobertson, C.A.; Earnest, A.; Chee, M.; Craig, M.E.; Colman, P.; Barrett, H.L.; Bergman, P.; Cameron, F.; Davis, E.E.; Donaghue, K.C.; Fegan, P.G.; Hamblin, P.S.; Holmes-Walker, D.J.; Jefferies, C.; Johnson, S.; Mok, M.T.; King, B.R.; Sinnott, R.; Ward, G.; Wheeler, B.J.; et al.
2014Refining analyses of copy number variation identifies specific genes associated with developmental delayCoe, 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.
2013Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme®) therapyBraunlin, 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.
2011Fetal blood sampling in addition to intrapartum ST-analysis of the fetal electrocardiogram: evaluation of the recommendations in the Dutch STAN® trialBecker, J.; Westerhuis, M.; Sterrenburg, K.; Van den Akker, E.; van Beek, E.; Bolte, A.; Van Dessel, T.; Drogtrop, A.; van Geijn, H.; Graziosi, G.; van Lith, J.; Mol, B.; Moons, K.; Nijhuis, J.; Oei, S.; Oosterbaan, H.; Porath, M.; Rijnders, R.; Schuitemaker, N.; Wijnberger, L.; et al.

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