Browsing "Paediatrics publications" by Author Haan, E.

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PreviewIssue DateTitleAuthor(s)
1998Effect of Parity, Gravidity, Previous Miscarriage, and Age On Risk of Downs-Syndrome - Population Based StudyChan, A.; McCaul, K.; Keane, R.; Haan, E.
2010Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation familiesHynes, K.; Tarpey, P.; Dibbens, L.; Bayly, M.; Berkovic, S.; Smith, R.; Al Raisi, Z.; Turner, S.; Brown, N.; Desai, T.; Haan, E.; Turner, G.; Christodoulou, J.; Leonard, H.; Gill, D.; Stratton, M.; Gecz, J.; Scheffer, I.
2008Epilepsy and mental retardation limited to females: an under-recognized disorderScheffer, I.; Turner, S.; Dibbens, L.; Bayly, M.; Friend, K.; Hodgson, B.; Burrows, L.; Shaw, M.; Wei, C.; Ullmann, R.; Ropers, H.; Szepetowski, P.; Haan, E.; Mazarib, A.; Afawi, Z.; Neufeld, M.; Andrews, P.; Wallace, G.; Kivity, S.; Lev, D.; et al.
2013Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGHNicholl, J.; Waters, W.; Suwalski, S.; Brown, S.; Hull, Y.; Harbord, M.; Entwistle, J.; Thompson, S.; Clark, D.; Pridmore, C.; Haan, E.; Barnett, C.; McGregor, L.; Liebelt, J.; Thompson, E.; Friend, K.; Bain, S.; Yu, S.; Mulley, J.
2006FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisitedAdes, L.; Sullivan, K.; Biggin, A.; Haan, E.; Brett, M.; Holman, K.; Dixon, J.; Robertson, S.; Holmes, A.; Rogers, J.; Bennetts, B.
2008Fetal alcohol syndrome: a prospective national surveillance studyElliott, E.; Payne, J.; Morris, A.; Haan, E.; Bower, C.
1997First-trimester diagnosis of Smith-Lemli-Opitz syndromeSharp, P.; Haan, E.; Fletcher, J.; Khong, T.; Carey, W.
1997FMR2 expression in families with FRAXE mental retardationGecz, J.; Oostra, B.; Hockey, A.; Carbonell, P.; Turner, G.; Haan, E.; Sutherland, G.; Mulley, J.
2008Folate awareness and the prevalence of neural tube defects in South Australia, 1966-2007Chan, 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 AustraliaChan, A.; Pickering, J.; Haan, E.; Netting, M.; Burford, A.; Johnson, A.; Keane, R.
2014FRA2A is a CGG repeat expansion associated with silencing of AFF3Metsu, 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.
2005Frequency of truly cryptic subtelomere abnormalities - a study of 534 patients and literature reviewYu, S.; Baker, E.; Hinton, L.; Eyre, H.; Waters, W.; Higgins, S.; Sutherland, G.; Haan, E.
2013Genotype and clinical care correlations in craniosynostosis: Findings from a cohort of 630 australian and new zealand patientsRoscioli, T.; Haan, E.; Thompson, E.; David, D.; Anderson, P.
2004Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variationTeber, 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.
2004Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) SyndromeWhite, 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.
2005Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancyPayne, J.; Elliott, E.; D'Antoine, H.; O'Leary, C.; Mahony, A.; Haan, E.; Bower, C.
2001Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndromeKelberman, 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.
1997High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn SyndromeFang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D.
1999Homozygotes for FRA16B are normalHocking, T.; Feichtinger, W.; Schmid, M.; Haan, E.; Baker, E.; Sutherland, G.
2014Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosisDelatycki, 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.