Preview | Issue Date | Title | Author(s) |
| 2002 | A familial cryptic subtelomeric deletion 12p with variable phenotypic effect | Baker, E.; Hinton, L.; Callen, D.; Haan, E.; Dobbie, A.; Sutherland, G. |
| 1998 | A 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. |
| 2006 | Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: A survey of paediatricians' knowledge, attitudes and practice | Elliott, E.; Payne, J.; Haan, E.; Bower, C. |
| 1995 | FRAXE and mental retardation | Mulley, 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. |
| 1996 | Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470) | Gedeon, A.; Haan, E.; Mulley, J. |
| 1997 | High resolution characterisation of an interstitial deletion of less than 1.9Mb at 4p16.3 associated with Wolf-Hirschhorn Syndrome | Fang, Y.; Bain, S.; Haan, E.; Eyre, H.; MacDonald, M.; Wright, T.; Altherr, M.; Riess, O.; Sutherland, G.; Callen, D. |
| 2017 | Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains | Geisheker, 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. |
| 2001 | Karyotypes found in the population declared at increased risk of Down Syndrome following maternal serum screening | Ryall, R.; Callen, D.; Cocciolone, R.; Duvnjak, A.; Esca, R.; Frantzis, N.; Gjerde, E.; Haan, E.; Hocking, T.; Sutherland, G.; Thomas, D.; Webb, F. |
| 2011 | Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitis | Barnett, C.; Dugar, M.; Haan, E. |
| 2017 | Novel 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. |
| 2003 | The clinical geneticist and the "new genetics" | Haan, E. |
| 2000 | Universal periconceptional folate supplementation: chasing a dream? | Chan, A.; Haan, E. |
| 2009 | Upper limb orthoses and assistive technology utilization in children with hemiplegic cerebral palsy recruited from a population register | Russo, R.; Atkins, R.; Haan, E.; Crotty, M. |
| 2013 | Yunis-Varón Syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase | Campeau, P.; Lenk, G.; Lu, J.; Bae, Y.; Burrage, L.; Turnpenny, P.; Corona-Rivera, J.; Morandi, L.; Mora, M.; Reutter, H.; Vulto-van Silfhout, A.; Faivre, L.; Haan, E.; Gibbs, R.; Meisler, M.; Lee, B. |
| 2017 | YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction | Gabriele, 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. |