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Results 11-20 of 118 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2019Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desminRiley, L.G.; Waddell, L.B.; Ghaoui, R.; Evesson, F.J.; Cummings, B.B.; Bryen, S.J.; Joshi, H.; Wang, M.X.; Brammah, S.; Kritharides, L.; Corbett, A.; MacArthur, D.G.; Cooper, S.T.
2019Pathogenic abnormal splicing due to intronic deletions that induce biophysical space constraint for spliceosome assemblyBryen, S.J.; Joshi, H.; Evesson, F.J.; Girard, C.; Ghaoui, R.; Waddell, L.B.; Testa, A.C.; Cummings, B.; Arbuckle, S.; Graf, N.; Webster, R.; MacArthur, D.G.; Laing, N.G.; Davis, M.R.; Lührmann, R.; Cooper, S.T.
2019A randomized controlled trial testing provision of fecal and blood test options on participation for colorectal cancer screeningSymonds, E.L.; Hughes, D.; Flight, I.; Woodman, R.; Chen, G.; Ratcliffe, J.; Pedersen, S.K.; Fraser, R.J.L.; Young, G.P.; Wilson, C.J.
2019Patellar tendon enthesis abnormalities and their association with knee pain and structural abnormalities in older adultsMattap, S.M.; Aitken, D.; Wills, K.; Halliday, A.; Ding, C.; Han, W.; Munugoda, I.; Graves, S.E.; Lorimer, M.; Cicuttini, F.; Jones, G.; Laslett, L.L.
2019'We're here to listen and help them as well': a qualitative study of staff and Indigenous patient perceptions about participating in social and emotional wellbeing research at primary healthcare servicesFarnbach, S.; Gee, G.; Eades, A.-M.; Evans, J.R.; Fernando, J.; Hammond, B.; Simms, M.; DeMasi, K.; Hackett, M.L.; Teixeira-Pinto, A.; Glozier, N.; Skinner, T.; Askew, D.; Cass, A.; Brown, A.
2019Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2Corbett, M.A.; Kroes, T.; Veneziano, L.; Bennett, M.F.; Florian, R.; Schneider, A.L.; Coppola, A.; Licchetta, L.; Franceschetti, S.; Suppa, A.; Wenger, A.; Mei, D.; Pendziwiat, M.; Kaya, S.; Delledonne, M.; Straussberg, R.; Xumerle, L.; Regan, B.; Crompton, D.; van Rootselaar, A.-F.; et al.
2019Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmissionGuo, H.; Li, Y.; Shen, L.; Wang, T.; Jia, X.; Liu, L.; Xu, T.; Ou, M.; Hoekzema, K.; Wu, H.; Gillentine, M.A.; Liu, C.; Ni, H.; Peng, P.; Zhao, R.; Zhang, Y.; Phornphutkul, C.; Stegmann, A.P.A.; Prada, C.E.; Hopkin, R.J.; et al.
2019Prostate MRI evolution in clinical practice: Audit of tumour detection and staging versus prostatectomy with staged introduction of multiparametric MRI and Prostate Imaging Reporting and Data System v2 reportingRaeside, M.; Low, A.; Cohen, P.; Sutherland, P.; Gormly, K.
2019Investigating Dimensions of Stiffness in Rheumatoid and Psoriatic Arthritis: The Australian Rheumatology Association Database Registry and OMERACT CollaborationSinnathurai, P.; Bartlett, S.J.; Halls, S.; Hewlett, S.; Orbai, A.M.; Buchbinder, R.; Henderson, L.; Hill, C.L.; Lassere, M.; March, L.
2019Within trial cost-utility analysis of disease management program for patients hospitalized with atrial fibrillation: results from the SAFETY trialByrnes, J.; Ball, J.; Gao, L.; Kai Chan, Y.; Kularatna, S.; Stewart, S.; Scuffham, P.A.