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| Preview | Issue Date | Title | Author(s) |
| 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. |
| 1997 | Mutation detection in FGFR2 craniosynostosis syndromes | Hollway, G.; Suthers, G.; Haan, E.; Thompson, E.; David, D.; Gecz, J.; Mulley, J. |
| 2011 | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I | He, H.; Liyanarachchi, S.; Akagi, K.; Nagy, R.; Li, J.; Dietrich, R.; Li, W.; Sebastian, N.; Wen, B.; Xin, B.; Singh, J.; Yan, P.; Alder, H.; Haan, E.; Wieczorek, D.; Albrecht, B.; Puffenberger, E.; Wang, H.; Westman, J.; Padgett, R.; et al. |
| 2014 | Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth | Homan, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L. |
| 2015 | Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency | Tan, C.; Shard, C.; Ranieri, E.; Hynes, K.; Pham, D.; Leach, D.; Buchanan, G.; Corbett, M.; Shoubridge, C.; Kumar, R.; Douglas, E.; Nguyen, L.; Mcmahon, J.; Sadleir, L.; Specchio, N.; Marini, C.; Guerrini, R.; Moller, R.; Depienne, C.; Haan, E.; et al. |
| 2006 | Neurotropic viruses and cerebral palsy: population based case-control study | Gibson, C.; MacLennan, A.; Goldwater, P.; Haan, E.; Priest, K.; Dekker, G. |
| 2012 | New mutations and sporadic intellectual disability | Gecz, J.; Haan, E. |
| 2000 | New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndrome | Cox, T.; Allen, L.; Cox, L.; Hopwood, B.; Goodwin, B.; Haan, E.; Suthers, G. |
