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PreviewIssue DateTitleAuthor(s)
1998A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy.Donnelly, A.; Haan, E.; Manson, J.; Mulley, J.
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.
2003The clinical geneticist and the "new genetics"Haan, E.
2017YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunctionGabriele, M.; Vulto-van Silfhout, A.; Germain, P.; Vitriolo, A.; Kumar, R.; Douglas, E.; Haan, E.; Kosaki, K.; Takenouchi, T.; Rauch, A.; Steindl, K.; Frengen, E.; Misceo, D.; Pedurupillay, C.; Stromme, P.; Rosenfeld, J.; Shao, Y.; Craigen, W.; Schaaf, C.; Rodriguez-Buritica, D.; et al.
2017Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome)Javadiyan, S.; Craig, J.; Sharma, S.; Lower, K.; Casey, T.; Haan, E.; Souzeau, E.; Burdon, K.
2017Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsGeisheker, M.; Heymann, G.; Wang, T.; Coe, B.; Turner, T.; Stessman, H.; Hoekzema, K.; Kvarnung, M.; Shaw, M.; Friend, K.; Liebelt, J.; Barnett, C.; Thompson, E.; Haan, E.; Guo, H.; Anderlid, B.; Nordgren, A.; Lindstrand, A.; Vandeweyer, G.; Alberti, A.; et al.
1996Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)Gedeon, A.; Haan, E.; Mulley, J.
1995FRAXE and mental retardationMulley, J.; Yu, S.; Loesch, D.; Hay, D.; Donnelly, A.; Gedeon, A.; Carbonell, P.; Lopez, I.; Glover, G.; Garbarron, I.; Yu, P.; Baker, E.; Haan, E.; Hockey, A.; Knight, S.; Daview, K.; Richards, R.; Sutherland, G.