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Preview	Issue Date	Title	Author(s)
	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.
	2003	X-linked myotubular myopathy in a family with three adult survivors	Yu, S.; Manson, J.; White, S.; Bourne, A.; Waddy, H.; Davis, M.; Haan, E.
	2010	A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay	Haan, E.; Gecz, J.
	2003	Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene	Davis, M.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.; et al.
	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.
	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.
	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.
	2005	The Hunter-McAlpine syndrome results from duplication 5q35-qter	Hunter, A.; DuPont, B.; McLaughlin, M.; Hinton, L.; Baker, E.; Ades, L.; Haan, E.; Schwartz, C.
	1995	Hydrometrocolpos and segmental colonic dilatation in a girl with megacystis-microcolon-intestinal hypoperistalsis syndrome	Dewan, P.; Brown, N.; Murthy, D.; Dnaga-Christian, B.; Haan, E.; Byard, R.; Watters, D.
	1998	The impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella-related terminations of pregnancy in South Australia	Cheffins, T.; Chan, A.; Keane, R.; Haan, E.; Hall, R.