1. Adelaide Research & Scholarship

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Results 21-30 of 39 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
2010De novo mutations of SETBP1 cause Schinzel-Giedion syndromeHoischen, A.; Van Bon, B.; Gilissen, C.; Arts, P.; van Lier, B.; Steehouwer, M.; de Vries, P.; de Reuver, R.; Wieskamp, N.; Mortier, G.; Devriendt, K.; Amorim, M.; Revencu, N.; Kidd, A.; Barbosa, M.; Turner, A.; Smith, J.; Olay, C.; Henderson, A.; Hayes, I.; et al.
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
2010Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective studyMcIntosh, A.; McMahon, J.; Dibbens, L.; Iona, X.; Mulley, J.; Scheffer, I.; Berkovic, S.
2010De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal originHeron, S.; Scheffer, I.; Iona, X.; Zuberi, S.; Birch, R.; McMahon, J.; Bruce, C.; Berkovic, S.; Mulley, J.
2012Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogSolomon, B.; Thompson, E.
2011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHe, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al.
2010Disruption at the PTCHD1 locus on Xp22.11 in Autism Spectrum Disorder and intellectual disabilityGecz, J.
2011Screening patients referred to a metabolic clinic for lysosomal storage disordersFuller, M.; Tucker, J.; Lang, D.; Dean, C.; Fietz, M.; Meikle, P.; Hopwood, J.
2012Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencingCalvo, S.; Compton, A.; Hershman, S.; Lim, S.; Lieber, D.; Tucker, E.; Laskowski, A.; Garone, C.; Liu, S.; Jaffe, D.; Christodoulou, J.; Fletcher, J.; Bruno, D.; Goldblatt, J.; DiMauro, S.; Thorburn, D.; Mootha, V.
2012Quality standards and samples in genetic testingRavine, D.; Suthers, G.

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