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PreviewIssue DateTitleAuthor(s)
1999A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome)Bhaumik, M.; Muller, V.; Rozaklis, T.; Johnson, L.; Dobrenis, K.; Bhattacharyya, R.; Wurzelmann, S.; Finamore, P.; Hopwood, J.; Walkley, S.; Stanley, P.
2008A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritisMartin, D.; Atmuri, V.; Hemming, R.; Farley, J.; Mort, J.; Byers, S.; Hombach-Klonisch, S.; Stern, R.; Triggs-Raine, B.
2021A multi-centre, open label, randomised, parallel-group, superiority Trial to compare the efficacy of URsodeoxycholic acid with RIFampicin in the management of women with severe early onset Intrahepatic Cholestasis of pregnancy: the TURRIFIC randomised trialHague, W.M.; Callaway, L.; Chambers, J.; Chappell, L.; Coat, S.; de Haan-Jebbink, J.; Dekker, M.; Dixon, P.; Dodd, J.; Fuller, M.; Gordijn, S.; Graham, D.; Heikinheimo, O.; Hennessy, A.; Kaaja, R.; Khong, T.Y.; Lampio, L.; Louise, J.; Makris, A.; Markus, C.; et al.
2017A multicentre randomised controlled trial of levetiracetam versus phenytoin for convulsive status epilepticus in children (protocol): Convulsive Status Epilepticus Paediatric Trial (ConSEPT) - a PREDICT studyDalziel, S.R.; Furyk, J.; Bonisch, M.; Oakley, E.; Borland, M.; Neutze, J.; Donath, S.; Sharpe, C.; Harvey, S.; Davidson, A.; Craig, S.; Phillips, N.; George, S.; Rao, A.; Cheng, N.; Zhang, M.; Sinn, K.; Kochar, A.; Brabyn, C.; Babl, F.E.
1995A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyLaing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
2012A new model of care for familial hypercholesterolaemia: What is the role of cardiology?Watts, G.; Sullivan, D.; van Bockxmeer, F.; Poplawski, N.; Hamilton-Craig, I.; Clifton, P.; O'Brien, R.; Bishop, W.; George, P.; Semsarian, C.; Tonkin, A.
2011A new syndrome with craniosynostosis and cleft lip and palateAnderson, P.; Haan, E.; David, D.
2010A new technique to examine individual pollutant particle and fibre deposition and transit behaviour in live mouse tracheaDonnelley, M.; Siu, K.; Morgan, K.; Skinner, W.; Suzuki, Y.; Takeuchi, A.; Uesugi, K.; Yagi, N.; Parsons, D.
2012A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disabilityHuang, L.; Jolly, L.; Willis-Owen, S.; Gardner, A.; Sharma, R.; Douglas, E.; Shoubridge, C.; Wieczorek, D.; Tzschach, A.; Cohen, M.; Hackett, A.; Field, M.; Froyen, G.; Hu, H.; Haas, S.; Ropers, H.; Kalscheuer, V.; Corbett, M.; Gecz, J.
2009A Novel Bocavirus Associated with Acute Gastroenteritis in Australian ChildrenArthur, J.; Higgins, G.; Davidson, G.; Givney, R.; Ratcliff, R.; Münger, K.
2005A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey Disease) expands the spectrum of collagen-related disordersGensure, R.; Makitie, O.; Barclay, C.; Chan, C.; DePalma, S.; Bastepe, M.; Abuzahra, H.; Couper, R.; Mundlos, S.; Sillence, D.; Kokko, L.; Seidman, J.; Cole, W.; Juppner, H.
2007A novel combined Haemophilus influenzae type b-Neisseria meningitidis serogroups C and Y-tetanus-toxoid conjugate vaccine is immunogenic and induces immune memory when co-administered with DTPa-HBV-IPV and conjugate pneumococcal vaccines in infantsNolan, T.; Lambert, S.; Roberton, D.; Marshall, H.; Richmond, P.; Streeton, C.; Poolman, J.; Boutriau, D.
2012A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disabilityHuang, L.; Poke, G.; Gecz, J.; Gibson, K.
2009A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generationsReish, O.; Fullston, T.; Regev, M.; Heyman, E.; Gecz, J.
2017A novel embryo culture media supplement that improves pregnancy rates in miceHighet, A.; Bianco-Miotto, T.; Pringle, K.; Peura, A.; Bent, S.; Zhang, J.; Nottle, M.; Thompson, J.; Roberts, C.
1997A Novel Epithelial-Expressed ETS Gene, ELF3 - Human and Murine cDNA Sequences, Murine Genomic Organization, Human Mapping to 1q32.2 and Expression in Tissues and CancerTymms, M.; Ng, A.; Thomas, R.; Schutte, B.; Zhou, J.; Eyre, H.; Sutherland, G.; Seth, A.; Rosenberg, M.; Papas, T.; Debouck, C.; Kola, I.
2002A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutationShaw, M.; Chiurazzi, P.; Romain, D.; Neri, G.; Gecz, J.
2009A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian familyBurdon, K.; Durkin, S.; Burke, M.; Edwards, M.; Pater, J.; Straga, T.; Gecz, J.; Liebelt, J.; Craig, J.
2008A novel locus for X-linked congenital cataract on Xq24Craig, J.; Friend, K.; Gecz, J.; Rattray, K.; Trotski, M.; Mackey, D.; Burdon, K.
2001A novel long chain polyunsaturated fatty acid, b-oxa 21:3n-3, inhibits T lymphocyte proliferation, cytokine production, delayed-type hypersensitivity, and carrageenan-induced paw reaction and selectively targets intracellular signalsCostabile, M.; Hii, C.; Robinson, B.; Rathjen, D.; Pitt, M.; Easton, C.; Miller, R.; Poulos, A.; Murray, A.; Ferrante, A.