Showing results 21 to 40 of 91
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Preview | Issue Date | Title | Author(s) |
| 1996 | Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome: implications for mapping and cloning the BOR gene | Gu, J.; Wagner, M.; Haan, E.; Wells, D. |
| 2003 | Disruption of the Serine/Threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation | Kalscheuer, V.; Tao, J.; Donnelly, A.; Hollway, G.; Schwinger, E.; Kubart, S.; Menzel, C.; Hoeltzenbein, M.; Tommerup, N.; Eyre, H.; Harbord, M.; Haan, E.; Sutherland, G.; Ropers, H.; Gecz, J. |
| 2016 | Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID | van Bon, B.W.M.; Coe, B.P.; Bernier, R.; Green, C.; Gerdts, J.; Witherspoon, K.; Kleefstra, T.; Willemsen, M.H.; Kumar, R.; Bosco, P.; Fichera, M.; Li, D.; Amaral, D.; Cristofoli, F.; Peeters, H.; Haan, E.; Romano, C.; Mefford, H.C.; Scheffer, I.; Gecz, J.; et al. |
| 1995 | Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome | Ades, L.; Morris, L.; Power, R.; Wilson, M.; Haan, E.; Bateman, J.; Milewicz, D.; Sillence, D. |
| 1998 | Effect of Parity, Gravidity, Previous Miscarriage, and Age On Risk of Downs-Syndrome - Population Based Study | Chan, A.; McCaul, K.; Keane, R.; Haan, E. |
| 2010 | Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families | Hynes, 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. |
| 2008 | Epilepsy and mental retardation limited to females: an under-recognized disorder | Scheffer, 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. |
| 2013 | Epilepsy with cognitive deficit and autism spectrum disorders: Prospective diagnosis by array CGH | Nicholl, 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. |
| 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. |