Showing results 65 to 84 of 144
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| Preview | Issue Date | Title | Author(s) |
| 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. |
| 2017 | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains | Geisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al. |
| 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. |
| 2015 | Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome | Shaw, M.; Yap, T.; Henden, L.; Bahlo, M.; Gardner, A.; Kalscheuer, V.; Haan, E.; Christie, L.; Hackett, A.; Gecz, J. |
| 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. |
| 2001 | Karyotypes found in the population declared at increased risk of Down Syndrome following maternal serum screening | Ryall, R.; Callen, D.; Cocciolone, R.; Duvnjak, A.; Esca, R.; Frantzis, N.; Gjerde, E.; Haan, E.; Hocking, T.; Sutherland, G.; Thomas, D.; Webb, F. |
| 2011 | Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis | Barnett, C.; Dugar, M.; Haan, E. |
| 1995 | Localization of craniosynostosis Adelaide type to 4p16 | Hollway, G.; Phillips, H.; Ades, L.; Haan, E.; Muley, J. |
| 2011 | Lung disease associated with periventricular nodular heterotopia and an FLNA mutation | Masurel-Paulet, A.; Haan, E.; Thompson, E.; Goizet, C.; Thauvin-Robinet, C.; Tai, A.; Kennedy, J.; Smith, G.; Khong, T.; Sole, G.; Guerineau, E.; Coupry, I.; Huet, F.; Robertson, S.; Faivre, L. |
| 2008 | Mannose binding lectin haplotypes are associated with cerebral palsy | Gibson, C.; MacLennan, A.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G. |
| 2008 | Mannose-binding lectin haplotypes may be associated with cerebral palsy only after perinatal viral exposure | Gibson, C.; MacLennan, A.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G. |
| 2005 | Maternal diabetes and congenital anomalies in South Australia 1986-2000: A population-based cohort study | Sharpe, P.; Chan, A.; Haan, E.; Hiller, J. |
| 1995 | Maternal serum screening and prenatal diagnosis for birth defects | Suthers, G.; Haan, E. |
| 2012 | Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene | Nagy, R.; Wang, H.; Albrecht, B.; Wieczorek, D.; Gillessen-Kaesbach, G.; Haan, E.; Meinecke, P.; de la Chapelle, A.; Westman, J. |
