Browsing "Paediatrics publications" by Author Haan, E.

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PreviewIssue DateTitleAuthor(s)
2009A 1q44 deletion, paternal UPD of chromosome 2 and a deletion due to a complex translocation detected in children with abnormal phenotypes using new SNP array technologyTalseth-Palmer, B.; Bowden, N.; Meldrum, C.; Nicholl, J.; Thompson, E.; Friend, K.; Liebelt, J.; Bratkovic, D.; Haan, E.; Yu, S.; Scott, R.
1995A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathyLaing, N.; Wilton, S.; Akkari, P.; Dorosz, S.; Boundy, K.; Kneebone, C.; Blumbergs, P.; White, S.; Watkins, H.; Love, D.; Haan, E.
2011A new syndrome with craniosynostosis and cleft lip and palateAnderson, P.; Haan, E.; David, D.
1998A population-based study of abdominal wall defects in South Australia and Western AustraliaByron-Scott, R.; Haan, E.; Chan, A.; Bower, C.; Scott, H.; Clark, K.
2010A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delayHaan, E.; Gecz, J.
1997A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndromeMuenke, M.; Gripp, K.; McDonald-McGinn, D.; Gaudenz, K.; Whitaker, L.; Bartlett, S.; Markowitz, R.; Robin, N.; Nwokoro, N.; Mulvihill, J.; Losken, H.; Mulliken, J.; Guttmacher, A.; Wilroy, R.; Clarke, L.; Hollway, G.; Ades, L.; Haan, E.; Mulley, J.; Cohen, M.; et al.
2000Acampomelic campomelic dysplasia with SOX9 mutationThong, M.; Scherer, G.; Kozlowski, K.; Haan, E.; Morris, L.
2006Analysis of cancer risk and BRCA1 and BRCA2 mutation prevalence in the kConFab familial breast cancer resourceMann, G.; Thorne, H.; Balleine, R.; Butow, P.; Clarke, C.; Edkins, E.; Evans, G.; Fereday, S.; Haan, E.; Gattas, M.; Giles, G.; Goldblatt, J.; Hopper, J.; Kirk, J.; Leary, J.; Lindeman, G.; Niedermayr, E.; Phillips, K.; Picken, S.; Pupo, G.; et al.
1999Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cellsHussey, N.; Donggui, H.; Froiland, D.; Hussey, D.; Haan, E.; Matthews, C.; Craig, J.
1998Autosomal dominant Klippel-Feil anomaly with cleft palateThompson, E.; Haan, E.; Sheffield, L.
2003Birth prevalence of Prader-Willi syndrome in AustraliaSmith, A.; Egan, J.; Ridley, G.; Haan, E.; Montgomery, P.; Williams, K.; Elliott, E.
2000Breast cancer screening uptake in women at increased risk of developing hereditary breast cancerMeiser, B.; Butow, P.; Barratt, A.; Friedlander, M.; Kirk, J.; Gaff, C.; Haan, E.; Aittomaki, K.; Tucker, K.
2013C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patientsDobson-Stone, C.; Hallupp, M.; Loy, C.; Thompson, E.; Haan, E.; Sue, C.; Panegyres, P.; Razquin, C.; Seijo-Martinez, M.; Ramon, R.; Gascon, J.; Campdelacreu, J.; Schmoll, B.; Volk, A.; Brooks, W.; Schofield, P.; Pastor, P.; Kwok, J.; Wider, C.
2012CCDC22: a novel candidate gene for syndromic X-linked intellectual disabilityVoineagu, J.; Huang, L.; Winden, K.; Lazaro, M.; Haan, E.; Nelson, J.; McGaughran, J.; Nguyen, L.; Friend, K.; Hackett, A.; Field, M.; Gecz, J.; Geschwind, D.
1996Characterisation of four novel fibrillin-1 mutations in the Marfan syndromeAdes, L.; Haan, E.; Colley, A.; Richards, R.
1997Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomySmith, A.; Marks, R.; Haan, E.; Dixon, J.; Trent, R.
1996Clinicopathologic features of congenital aneurysms of the great vesselsAdes, L.; Knight, W.; Byard, R.; Bateman, J.; Esquivel, J.; Mee, R.; Haan, E.; Milewicz, D.
2008Combining first and second trimester markers for Down syndrome screening: Think twiceCocciolone, R.; Brameld, K.; OLeary, P.; Haan, E.; Muller, P.; Shand, K.
2004Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomesLobb, E.; Butow, P.; Barratt, A.; Meiser, B.; Gaff, C.; Young, M.; Haan, E.; Suthers, G.; Gattas, M.; Tucker, K.
2010CP or not CP? A review of diagnoses in a cerebral palsy registerZarrinkalam, R.; Russo, R.; Gibson, C.; van Essen, P.; Peek, A.; Haan, E.