Browsing "Paediatrics publications" by Author Haan, E.

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PreviewIssue DateTitleAuthor(s)
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.
1995Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndromeDewan, P.; Brown, N.; Murthy, D.; Dnaga-Christian, B.; Haan, E.; Byard, R.; Watters, D.
1995Improving diagnosis of Huntington's disease by analysis of an intragenic trinucleotide repeat expansionFirgaira, F.; Turner, D.; Haan, E.; Suthers, G.
2013In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutationHansford, J.; Pal, M.; Poplawski, N.; Haan, E.; Boog, B.; Ferrante, A.; Davis, J.; Niemela, J.; Rao, V.; Suppiah, R.
2000Intention to undergo prophylactic bilateral mastectomy in women at increased risk of developing hereditary breast cancerMeiser, B.; Butow, P.; Friedlander, M.; Schnieden, V.; Gattas, M.; Kirk, J.; Suthers, G.; Haan, E.; Tucker, K.
1995Localization of craniosynostosis Adelaide type to 4p16Hollway, G.; Phillips, H.; Ades, L.; Haan, E.; Muley, J.
2011Lung disease associated with periventricular nodular heterotopia and an FLNA mutationMasurel-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.
1995Maternal serum screening and prenatal diagnosis for birth defectsSuthers, G.; Haan, E.
2012Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC geneNagy, R.; Wang, H.; Albrecht, B.; Wieczorek, D.; Gillessen-Kaesbach, G.; Haan, E.; Meinecke, P.; de la Chapelle, A.; Westman, J.
1997Mutation detection in FGFR2 craniosynostosis syndromesHollway, G.; Suthers, G.; Haan, E.; Thompson, E.; David, D.; Gecz, J.; Mulley, J.
2011Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD IHe, 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.
2014Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growthHoman, C.; Kumar, R.; Nguyen, L.; Haan, E.; Raymond, F.; Abidi, F.; Raynaud, M.; Schwartz, C.; Wood, S.; Gecz, J.; Jolly, L.
2012New mutations and sporadic intellectual disabilityGecz, J.; Haan, E.
2000New mutations in MID1 provide support for loss of function as the cause of X-linked Optiz syndromeCox, T.; Allen, L.; Cox, L.; Hopwood, B.; Goodwin, B.; Haan, E.; Suthers, G.
2008Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndromeLaforest, C.; Leibovitch, I.; Selva-Nayagam, D.; Crompton, J.; Haan, E.
1995Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508)Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C.