Research output per year
Research output per year
Search results
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2010
An updated genetics education framework for UK nurses
Kirk, M., Tonkin, E., Skirton, H., Longley, M. & McDonald, K., Sep 2010, In: Journal of Medical Genetics. 47, p. S106-S106 1 p.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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Developing the nursing role Inherited cardiac conditions (ICC) services utilising BHF Cardiac Genetic Nurses an evaluation
Kirk, M., Tonkin, E., Simpson, A., Cohen, D., Edwards, A., Llewellyn, M. & Longley, M., Sep 2010, In: Journal of Medical Genetics. 47, p. S29-S29 1 p.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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Using Google Analytics to inform strategy for the 'Telling Stories, Understanding Real Life Genetics' health professional education resource
Telling Stories Project Team, Sep 2010, In: Journal of Medical Genetics. 47, p. S107-S107 1 p.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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2003
A giant gone encoding a developmentally regulated novel member of the M28 peptidase family is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
Tonkin, E., Smith, M., Eichhorn, P., Jones, S., Imamwerdi, B., Jackson, M., Lindsay, S., Carter, N., Wang, TJ., Ireland, M., Burn, J., Krantz, I. D. & Strachan, T., Nov 2003, In: American Journal of Human Genetics. 73, 5, p. 566-566 1 p., 566 abstract no. 2332.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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Genome-wide linkage analysis identifies five candidate gene regions in the Cornelia de Lange syndrome (CdLS).
Gillis, LA., Strachan, T., Tonkin, E., Kaur, M., Bottani, A., Li, HH., Jackson, LG., Devoto, M. & Krantz, ID., Nov 2003, In: American Journal of Human Genetics. 73, 5, p. 475-475 1 p.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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2001
A novel gene is disrupted by a Cornelia de Lange-associated translocation breakpoint at 3q26.3
Tonkin, E., Smith, M., Eichhorn, P., Hagan, D., Herrell, S., Lusher, M., Ireland, M., Burn, J. & Strachan, T., Oct 2001, In: American Journal of Human Genetics. 69, 4, p. 618-618 1 p.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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2000
Cloning of disease-associated breakpoint regions at 3q26.3 and 21q11 in Cornelia de Lange syndrome patients with balanced de novo translocations
Strachan, T., Smith, M., Eichhorn, P., Tonkin, E., Jones, S., Ireland, M., Simpson, C., Krantz, I. D., Jackson, L. & Nizetic, D., Nov 2000, In: Developmental Dynamics. 219, 3, p. 443-444 2 p., Abstract 40.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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1999
The Cornelia de Lange syndrome; Cytogenetic and molecular analysis, with exclusion of linkage to chromosome 3q in some familial cases.
Krantz, I. D., Tonkin, E., Hofreiter, M., Smith, M., Jukofsky, L., Conti, B. P., Simpson, C., Abraham, A., Kline, A. D., Strachan, T. & Jackson, L., Oct 1999, In: American Journal of Human Genetics. 65, 4, p. A306-A306 1 p.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review
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1997
Identification of candidate genes for autosomal dominant retinitis pigmentosa (RP10) mapping to 7q31-q35.
Tonkin, ET., Mohamed, Z., Haites, N. & Shaw, D. J., Oct 1997, In: American Journal of Human Genetics. 61, 4, p. A403-A403 1 p.Research output: Contribution to journal › Conference or Meeting Abstract › peer-review