Browsing "School of Molecular and Biomedical Science" by Author Haan, E.

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 15 of 15
PreviewIssue DateTitleAuthor(s)
2002A familial cryptic subtelomeric deletion 12p with variable phenotypic effectBaker, E.; Hinton, L.; Callen, D.; Haan, E.; Dobbie, A.; Sutherland, G.
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.
2006Diagnosis of foetal alcohol syndrome and alcohol use in pregnancy: A survey of paediatricians' knowledge, attitudes and practiceElliott, E.; Payne, J.; Haan, E.; Bower, C.
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.
1996Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470)Gedeon, A.; Haan, E.; 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.
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.
2001Karyotypes found in the population declared at increased risk of Down Syndrome following maternal serum screeningRyall, R.; Callen, D.; Cocciolone, R.; Duvnjak, A.; Esca, R.; Frantzis, N.; Gjerde, E.; Haan, E.; Hocking, T.; Sutherland, G.; Thomas, D.; Webb, F.
2011Late-onset variant fibrodysplasia ossificans progressiva leading to misdiagnosis of ankylosing spondylitisBarnett, C.; Dugar, M.; Haan, E.
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.
2003The clinical geneticist and the "new genetics"Haan, E.
2000Universal periconceptional folate supplementation: chasing a dream?Chan, A.; Haan, E.
2009Upper limb orthoses and assistive technology utilization in children with hemiplegic cerebral palsy recruited from a population registerRusso, R.; Atkins, R.; Haan, E.; Crotty, M.
2013Yunis-Varón Syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphataseCampeau, 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.
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.