Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

Browse by Current Cardiff authors

Up a level
Export as [feed] Atom [feed] RSS 1.0 [feed] RSS 2.0
Number of items: 4.

Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter A., van Eeghen, Agnies M., Thiele, Elizabeth A., van den Ouweland, Ans, Halley, Dicky and Nellist, Mark 2013. Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Human Mutation 34 (2) , pp. 409-410. 10.1002/humu.22256

Hoogeveen-Westerveld, Marianne, Ekong, Rosemary, Povey, Sue, Mayer, Karin, Lannoy, Nathalie, Elmslie, Frances, Bebin, Martina, Dies, Kira, Thompson, Catherine, Sparagana, Steven P., Davies, Peter A., van den Ouweland, Ans, Halley, Dicky and Nellist, Mark 2013. Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Human Mutation 34 (1) , pp. 167-175. 10.1002/humu.22202

Dunlop, Elaine A., Dodd, Kayleigh M., Land, Stephen C, Davies, Peter A., Martins, Nicole, Stuart, Helen, McKee, Shane, Kingswood, Chris, Saggar, Anand, Corderio, Isabel, Medeira, Ana Maria Duarte, Kingston, Helen, Sampson, Julian Roy, Davies, David Mark and Tee, Andrew 2011. Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence. European Journal of Human Genetics 19 (7) , pp. 789-795. 10.1038/ejhg.2011.38

Snell, Russell G., MacMillan, John C., Cheadle, Jeremy Peter, Fenton, Iain, Lazarou, Lazarus P., Davies, Peter, MacDonald, Marcy E., Gusella, James F., Harper, Peter Stanley and Shaw, Duncan J. 1993. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nature Genetics 4 (4) , pp. 393-397. 10.1038/ng0893-393

This list was generated on Thu Jun 27 08:42:56 2019 BST.