Showing results 29 to 48 of 91
< previous
next >
| Preview | Issue Date | Title | Author(s) |
| 2006 | FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited | Ades, L.; Sullivan, K.; Biggin, A.; Haan, E.; Brett, M.; Holman, K.; Dixon, J.; Robertson, S.; Holmes, A.; Rogers, J.; Bennetts, B. |
| 2008 | Fetal alcohol syndrome: a prospective national surveillance study | Elliott, E.; Payne, J.; Morris, A.; Haan, E.; Bower, C. |
| 1997 | First-trimester diagnosis of Smith-Lemli-Opitz syndrome | Sharp, P.; Haan, E.; Fletcher, J.; Khong, T.; Carey, W. |
| 1997 | FMR2 expression in families with FRAXE mental retardation | Gecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J. |
| 2008 | Folate awareness and the prevalence of neural tube defects in South Australia, 1966-2007 | Chan, A.; van Essen, P.; Scott, H.; Haan, E.; Sage, L.; Scott, J.; Gill, T.; Nguyen, A. |
| 2001 | "Folate before pregnancy": the impact on women and health professionals of a population-based health promotion campaign in South Australia | Chan, A.; Pickering, J.; Haan, E.; Netting, M.; Burford, A.; Johnson, A.; Keane, R. |
| 2014 | FRA2A is a CGG repeat expansion associated with silencing of AFF3 | Metsu, S.; Rooms, L.; Rainger, J.; Taylor, M.; Bengani, H.; Wilson, D.; Chilamakuri, C.; Morrison, H.; Vandeweyer, G.; Reyniers, E.; Douglas, E.; Thompson, G.; Haan, E.; Gecz, J.; FitzPatrick, D.; Kooy, R.; Pearson, C. |
| 2005 | Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature review | Yu, S.; Baker, E.; Hinton, L.; Eyre, H.; Waters, W.; Higgins, S.; Sutherland, G.; Haan, E. |
| 2013 | Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patients | Roscioli, T.; Haan, E.; Thompson, E.; David, D.; Anderson, P. |
| 2004 | Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation | Teber, O.; Gillessen-Kaesbach, G.; Fischer, S.; Bohringer, S.; Albrecht, B.; Albert, A.; Arslan-Kirchner, M.; Haan, E.; Hagedorn-Greiwe, M.; Hammans, C.; Henn, W.; Hinkel, G.; Konig, R.; Kunstmann, E.; Kunze, J.; Neumann, L.; Prott, E.; Rauch, A.; Rott, H.; Seidel, H.; et al. |
| 2004 | Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) Syndrome | White, S.; Thompson, E.; Kidd, A.; Savarirayan, R.; Turner, A.; Amor, D.; Delatycki, M.; Fahey, M.; Baxendale, A.; White, S.; Haan, E.; Gibson, K.; Halliday, J.; Bankier, A. |
| 2005 | Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancy | Payne, J.; Elliott, E.; D'Antoine, H.; O'Leary, C.; Mahony, A.; Haan, E.; Bower, C. |
| 2001 | Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome | Kelberman, D.; Tyson, J.; Chandler, D.; McInerney, A.; Slee, J.; Albert, D.; Aymat, A.; Botma, M.; Calvert, M.; Goldblatt, J.; Haan, E.; Laing, N.; Lim, J.; Malcolm, S.; Singer, S.; Winter, R.; Bitner-Glindzicz, M. |
| 1997 | High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome | Fang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D. |
| 1999 | Homozygotes for FRA16B are normal | Hocking, T.; Feichtinger, W.; Schmid, M.; Haan, E.; Baker, E.; Sutherland, G. |
| 2014 | Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis | Delatycki, M.; Burke, J.; Christie, L.; Collins, F.; Gabbett, M.; George, P.; Haan, E.; Ioannou, L.; Martin, N.; McKenzie, F.; O'Leary, P.; Scoble-Williams, N.; Turner, G.; Massie, J. |
| 1995 | Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndrome | Dewan, P.; Brown, N.; Murthy, D.; Dnaga-Christian, B.; Haan, E.; Byard, R.; Watters, D. |
| 1995 | Improving diagnosis of Huntington's disease by analysis of an intragenic trinucleotide repeat expansion | Firgaira, F.; Turner, D.; Haan, E.; Suthers, G. |
| 2013 | In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation | Hansford, J.; Pal, M.; Poplawski, N.; Haan, E.; Boog, B.; Ferrante, A.; Davis, J.; Niemela, J.; Rao, V.; Suppiah, R. |
| 2000 | Intention to undergo prophylactic bilateral mastectomy in women at increased risk of developing hereditary breast cancer | Meiser, B.; Butow, P.; Friedlander, M.; Schnieden, V.; Gattas, M.; Kirk, J.; Suthers, G.; Haan, E.; Tucker, K. |
