1. Adelaide Research & Scholarship

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Results 1-10 of 40 (Search time: 0.002 seconds).
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PreviewIssue DateTitleAuthor(s)
2004A genetic screen for dominant modifiers of a cyclin E hypomorphic mutation identifies novel regulators of S-Phase entry in DrosophilaBrumby, A.; Secombe, J.; Horsfield, J.; Coombe, M.; Amin, N.; Coates, D.; Saint, R.; Richardson, H.
2008Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoformSharma, S.; Burdon, K.; Dave, A.; Jamieson, R.; Yaron, Y.; Billson, F.; van Maldergem, L.; Lorenz, B.; Gecz, J.; Craig, J.
2004De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiencyMcFarland, R.; Kirby, D.; Fowler, K.; Ohtake, A.; Ryan, M.; Amor, D.; Fletcher, J.; Dixon, J.; Collins, F.; Turnbull, D.; Taylor, R.; Thorburn, A.
2008Preimplantation genetic diagnosis for BRCA1 exon 13 duplication mutation using linked polymorphic markers resulting in a live birthJasper, M.; Liebelt, J.; Hussey, N.
2002Sodium-channel defects in benign familial neonatal-infantile seizuresHeron, S.; Crossland, K.; Andermann, E.; Phillips, H.; Hall, A.; Bleasel, A.; Shevell, M.; Mercho, S.; Seni, M.; Guiot, M.; Mulley, J.; Berkovic, S.; Scheffer, I.
2008TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafnessGuipponi, M.; Antonarakis, S.; Scott, H.
2002Biochemical and molecular analysis of mucopolysaccharidoses in TurkeyEmre, S.; Terzioglu, M.; Coskun, T.; Tokatli, A.; Ozalp, I.; Muller, V.; Hopwood, J.
2007Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardationTarpey, P.; Raymond, F.; Nguyen, L.; Rodriguez, J.; Hackett, A.; Vandeleur, L.; Smith, R.; Shoubridge, C.; Edkins, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Hills, K.; Jones, D.; Mironenko, T.; Perry, J.; et al.
2000A de novo mutation in sporadic nocturnal frontal lobe epilepsyPhillips, H.; Marini, C.; Scheffer, I.; Sutherland, G.; Mulley, J.; Berkovic, S.
2008Evaluating DNA sequence variants of unknown biological significanceGrist, S.; Dubowsky, A.; Suthers, G.; Trent, R.

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