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Preview | Issue Date | Title | Author(s) |
| 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. |
| 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. |
| 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. |
| 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. |
| 2008 | Ocular colobomata, polydactyly, cleft palate and panhypopituitarism: a new syndrome | Laforest, C.; Leibovitch, I.; Selva-Nayagam, D.; Crompton, J.; Haan, E. |
| 1995 | Optimal polymerase chain reaction amplification for preimplantation diagnosis in cystic fibrosis (∆F508) | Cui, K.H.; Haan, E.; Wang, L.J.; Matthews, C. |
| 1999 | Origins of accessory small ring marker chromosomes derived from chromosome 1 | Callen, D.; Eyre, H.; Fang, Y.; Guan, X.; Veleba, A.; Martin, N.; McGill, J.; Haan, E. |
| 2010 | Osteopathia Striata with cranial sclerosis owing to WTX gene defect | Perdu, B.; de Freitas, F.; Frints, S.; Schouten, M.; Schrander-Stumpel, C.; Barbosa, M.; Pinto-Basto, J.; Reis-Lima, M.; de Vernejoul, M.; Becker, K.; Freckmann, M.; Keymolin, K.; Haan, E.; Savarirayan, R.; Koenig, B.; Zabel, B.; Vanhoenacker, F.; Van Hul, W. |
| 2008 | Pain characteristics and their association with quality of life and self-concept in children with hemiplegic cerebral palsy identified from a population register | Russo, R.; Miller, M.; Haan, E.; Cameron, I.; Crotty, M. |
| 2003 | PEHO and PEHO-like syndromes: Report of five Australian cases | Field, M.; Grattan-Smith, P.; Piper, S.; Thompson, E.; Haan, E.; Edwards, M.; James, S.; Wilkinson, I.; Ades, L. |
| 1997 | Perinatal risk factors for developmental dysplasia of the hip | Chan, A.; McCaul, K.; Cundy, P.; Haan, E.; Byron-Scott, R. |
| 1998 | Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene | Gibson, M.; Ellis, S.; Ades, L.; Haan, E.; Cleary, E. |