Showing results 1 to 20 of 91
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. |
| 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. |
| 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. |
| 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. |
| 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. |
| 2013 | C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients | Dobson-Stone, C.; Hallupp, M.; Loy, C.; Thompson, E.; Haan, E.; Sue, C.; Panegyres, P.; Razquin, C.; Seijo-Martinez, M.; Ramon, R.; Gascon, J.; Campdelacreu, J.; Schmoll, B.; Volk, A.; Brooks, W.; Schofield, P.; Pastor, P.; Kwok, J.; Wider, C. |
| 2012 | CCDC22: a novel candidate gene for syndromic X-linked intellectual disability | Voineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D. |
| 1996 | Characterisation of four novel fibrillin-1 mutations in the Marfan syndrome | Ades, L.; Haan, E.; Colley, A.; Richards, R. |
| 1997 | Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy | Smith, A.; Marks, R.; Haan, E.; Dixon, J.; Trent, R. |
| 1996 | Clinicopathologic features of congenital aneurysms of the great vessels | Ades, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D. |
| 2008 | Combining first and second trimester markers for Down syndrome screening: Think twice | Cocciolone, R.; Brameld, K.; OLeary, P.; Haan, E.; Muller, P.; Shand, K. |
| 2004 | Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes | Lobb, E.; Butow, P.; Barratt, A.; Meiser, B.; Gaff, C.; Young, M.; Haan, E.; Suthers, G.; Gattas, M.; Tucker, K. |
| 2010 | CP or not CP? A review of diagnoses in a cerebral palsy register | Zarrinkalam, R.; Russo, R.; Gibson, C.; van Essen, P.; Peek, A.; Haan, E. |