Browsing "University Library" by Author Haan, E.

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PreviewIssue DateTitleAuthor(s)
2009A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technologyTalseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R.
2002A familial cryptic subtelomeric deletion 12p with variable phenotypic effectBaker, E.; Hinton, L.; Callen, D.; Haan, E.; Dobbie, A.; Sutherland, G.
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.
2011A new syndrome with craniosynostosis and cleft lip and palateAnderson, P.; Haan, E.; David, D.
2016A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardiaGray, B.; Bagnall, R.; Lam, L.; Ingles, J.; Turner, C.; Haan, E.; Davis, A.; Yang, P.; Clancy, C.; Sy, R.; Semsarian, C.
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.
1998A population-based study of abdominal wall defects in South Australia and Western AustraliaByron-Scott, R.; Haan, E.; Chan, A.; Bower, C.; Scott, H.; Clark, K.
2010A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayHaan, E.; Gecz, J.
2005A South Australian population-based study of congenital talipes equinovarusByron-Scott, R.; Sharpe, P.; Hasler, C.; Cundy, P.; Hirte, C.; Chan, A.; Scott, H.; Baghurst, P.; Haan, E.
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.
2000Acampomelic campomelic dysplasia with SOX9 mutationThong, M.; Scherer, G.; Kozlowski, K.; Haan, E.; Morris, L.
2006Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceMann, G.; Thorne, H.; Balleine, R.; Butow, P.; Clarke, C.; Edkins, E.; Evans, G.; Fereday, S.; Haan, E.; Gattas, M.; Giles, G.; Goldblatt, J.; Hopper, J.; Kirk, J.; Leary, J.; Lindeman, G.; Niedermayr, E.; Phillips, K.; Picken, S.; Pupo, G.; et al.
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.
2009Apolipoprotein E genotype is not associated with cerebral palsyMcMichael, G.; Gibson, C.; MacLennan, A.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G.; International Cerebral Palsy Conference (3rd : 2009 : Sydney, New South Wales)
2008Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a caucasian populationMcMichael, G.; Gibson, C.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G.; MacLennan, A.
2006Associations between fetal inherited thrombophilia and adverse pregnancy outcomesGibson, C.; MacLennan, A.; Janssen, N.; Kist, W.; Hague, W.; Haan, E.; Goldwater, P.; Priest, K.; Dekker, G.
2005Associations between inherited thrombophilias, gestational age, and cerebral palsyGibson, C.; MacLennan, A.; Hague, W.; Haan, E.; Priest, K.; Chan, A.; Dekker, G.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
2003Birth prevalence of Prader-Willi syndrome in AustraliaSmith, A.; Egan, J.; Ridley, G.; Haan, E.; Montgomery, P.; Williams, K.; Elliott, E.
2000Breast cancer screening uptake in women at increased risk of developing hereditary breast cancerMeiser, B.; Butow, P.; Barratt, A.; Friedlander, M.; Kirk, J.; Gaff, C.; Haan, E.; Aittomaki, K.; Tucker, K.