Showing results 1 to 20 of 144
next >
Preview | Issue Date | Title | Author(s) |
| 2009 | A 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 technology | Talseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R. |
| 2002 | A familial cryptic subtelomeric deletion 12p with variable phenotypic effect | Baker, E.; Hinton, L.; Callen, D.; Haan, E.; Dobbie, A.; Sutherland, G. |
| 1995 | A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy | Laing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E. |
| 2011 | A new syndrome with craniosynostosis and cleft lip and palate | Anderson, P.; Haan, E.; David, D. |
| 2016 | A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia | Gray, B.; Bagnall, R.; Lam, L.; Ingles, J.; Turner, C.; Haan, E.; Davis, A.; Yang, P.; Clancy, C.; Sy, R.; Semsarian, C. |
| 1998 | A 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. |
| 1998 | A population-based study of abdominal wall defects in South Australia and Western Australia | Byron-Scott, R.; Haan, E.; Chan, A.; Bower, C.; Scott, H.; Clark, K. |
| 2010 | A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay | Haan, E.; Gecz, J. |
| 2005 | A South Australian population-based study of congenital talipes equinovarus | Byron-Scott, R.; Sharpe, P.; Hasler, C.; Cundy, P.; Hirte, C.; Chan, A.; Scott, H.; Baghurst, P.; Haan, E. |
| 1997 | A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome | Muenke, 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. |
| 2000 | Acampomelic campomelic dysplasia with SOX9 mutation | Thong, M.; Scherer, G.; Kozlowski, K.; Haan, E.; Morris, L. |
| 2006 | Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resource | Mann, 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. |
| 1999 | Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells | Hussey, N.; Donggui, H.; Froiland, D.; Hussey, D.; Haan, E.; Matthews, C.; Craig, J. |
| 2009 | Apolipoprotein E genotype is not associated with cerebral palsy | McMichael, G.; Gibson, C.; MacLennan, A.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G.; International Cerebral Palsy Conference (3rd : 2009 : Sydney, New South Wales) |
| 2008 | Association between apolipoprotein E genotype and cerebral palsy is not confirmed in a caucasian population | McMichael, G.; Gibson, C.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G.; MacLennan, A. |
| 2006 | Associations between fetal inherited thrombophilia and adverse pregnancy outcomes | Gibson, C.; MacLennan, A.; Janssen, N.; Kist, W.; Hague, W.; Haan, E.; Goldwater, P.; Priest, K.; Dekker, G. |
| 2005 | Associations between inherited thrombophilias, gestational age, and cerebral palsy | Gibson, C.; MacLennan, A.; Hague, W.; Haan, E.; Priest, K.; Chan, A.; Dekker, G. |
| 1998 | Autosomal dominant Klippel-Feil anomaly with cleft palate | Thompson, E.; Haan, E.; Sheffield, L. |
| 2003 | Birth prevalence of Prader-Willi syndrome in Australia | Smith, A.; Egan, J.; Ridley, G.; Haan, E.; Montgomery, P.; Williams, K.; Elliott, E. |
| 2000 | Breast cancer screening uptake in women at increased risk of developing hereditary breast cancer | Meiser, B.; Butow, P.; Barratt, A.; Friedlander, M.; Kirk, J.; Gaff, C.; Haan, E.; Aittomaki, K.; Tucker, K. |