1. Adelaide Research & Scholarship

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Results 1-10 of 20 (Search time: 0.003 seconds).
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PreviewIssue DateTitleAuthor(s)
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
1998A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
1997High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn SyndromeFang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D.
1999Homozygotes for FRA16B are normalHocking, T.; Feichtinger, W.; Schmid, M.; Haan, E.; Baker, E.; Sutherland, G.
1996Clinicopathologic features of congenital aneurysms of the great vesselsAdes, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
1996Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)Gedeon, A.; Haan, E.; Mulley, J.
1999Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cellsHussey, N.; Donggui, H.; Froiland, D.; Hussey, D.; Haan, E.; Matthews, C.; Craig, J.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
1998SHORT syndrome: distinctive radiographic featuresHaan, E.; Morris, L.

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