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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 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

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

Dunlop, Elaine A. ORCID: https://orcid.org/0000-0002-9209-7561, 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 ORCID: https://orcid.org/0000-0002-2902-2348, Davies, David Mark and Tee, Andrew ORCID: https://orcid.org/0000-0002-5577-4631 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 ORCID: https://orcid.org/0000-0001-9453-8458, 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

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