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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Nicholas James Beauchamp

Academic Unit of Child Health

University of Sheffield

Stephenson Wing

Sheffield Children's NHS Trust

[email]@sheffield.ac.uk

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Affiliations

Academic Unit of Child Health, University of Sheffield, Stephenson Wing, Sheffield Children's NHS Trust, UK. 2007
Division of Molecular and Genetic Medicine, Royal Hallamshire Hospital, Sheffield, UK. 1998 - 2004

References

High frequency of missense mutations in glycogen storage disease type VI. Beauchamp, N.J., Taybert, J., Champion, M.P., Layet, V., Heinz-Erian, P., Dalton, A., Tanner, M.S., Pronicka, E., Sharrard, M.J. J. Inherit. Metab. Dis. (2007) [Pubmed]
Glycogen storage disease type IX: High variability in clinical phenotype. Beauchamp, N.J., Dalton, A., Ramaswami, U., Niinikoski, H., Mention, K., Kenny, P., Kolho, K.L., Raiman, J., Walter, J., Treacy, E., Tanner, S., Sharrard, M. Mol. Genet. Metab. (2007) [Pubmed]
The prevalence of, and molecular defects underlying, inherited protein S deficiency in the general population. Beauchamp, N.J., Dykes, A.C., Parikh, N., Campbell Tait, R., Daly, M.E. Br. J. Haematol. (2004) [Pubmed]
A novel mutation in intron K of the PROS1 gene causes aberrant RNA splicing and is a common cause of protein S deficiency in a UK thrombophilia cohort. Beauchamp, N.J., Daly, M.E., Makris, M., Preston, F.E., Peake, I.R. Thromb. Haemost. (1998) [Pubmed]