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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.

Research output: Contribution to journal › Article › peer-review

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Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. / Hastings, R.; Charman, T.; Neilson, T.C. et al.
In: European Journal of Human Genetics, Vol. 13, No. 10, 01.10.2005, p. 1121-1130.

Research output: Contribution to journal › Article › peer-review

HarvardHarvard

Hastings, R, Charman, T, Neilson, TC, Mash, V, Archer, H, Gardiner, MT, Knudsen, GP, McDonnell, A, Perry, J, Whatley, SD, Bunyan, DJ, Ravn, K, Mount, RH, Hastings, RP, Hulten, M, Orstavik, KH, Reilly, S, Cass, H, Clarke, A, Kerr, AM & Bailey, ME 2005, 'Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.', European Journal of Human Genetics, vol. 13, no. 10, pp. 1121-1130. https://doi.org/10.1038/sj.ejhg.5201471

APA

Hastings, R., Charman, T., Neilson, T. C., Mash, V., Archer, H., Gardiner, M. T., Knudsen, G. P., McDonnell, A., Perry, J., Whatley, S. D., Bunyan, D. J., Ravn, K., Mount, R. H., Hastings, R. P., Hulten, M., Orstavik, K. H., Reilly, S., Cass, H., Clarke, A., ... Bailey, M. E. (2005). Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European Journal of Human Genetics, 13(10), 1121-1130. https://doi.org/10.1038/sj.ejhg.5201471

CBE

Hastings R, Charman T, Neilson TC, Mash V, Archer H, Gardiner MT, Knudsen GP, McDonnell A, Perry J, Whatley SD, et al. 2005. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European Journal of Human Genetics. 13(10):1121-1130. https://doi.org/10.1038/sj.ejhg.5201471

MLA

Hastings, R. et al. "Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.". European Journal of Human Genetics. 2005, 13(10). 1121-1130. https://doi.org/10.1038/sj.ejhg.5201471

VancouverVancouver

Hastings R, Charman T, Neilson TC, Mash V, Archer H, Gardiner MT et al. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European Journal of Human Genetics. 2005 Oct 1;13(10):1121-1130. doi: 10.1038/sj.ejhg.5201471

Author

Hastings, R. ; Charman, T. ; Neilson, T.C. et al. / Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. In: European Journal of Human Genetics. 2005 ; Vol. 13, No. 10. pp. 1121-1130.

RIS

TY - JOUR

T1 - Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.

AU - Hastings, R.

AU - Charman, T.

AU - Neilson, T.C.

AU - Mash, V.

AU - Archer, H.

AU - Gardiner, M.T.

AU - Knudsen, G.P.

AU - McDonnell, A.

AU - Perry, J.

AU - Whatley, S.D.

AU - Bunyan, D.J.

AU - Ravn, K.

AU - Mount, R.H.

AU - Hastings, R.P.

AU - Hulten, M.

AU - Orstavik, K.H.

AU - Reilly, S.

AU - Cass, H.

AU - Clarke, A.

AU - Kerr, A.M.

AU - Bailey, M.E.

PY - 2005/10/1

Y1 - 2005/10/1

KW - BIOCHEMISTRY & MOLECULAR BIOLOGY

KW - GENETICS & HEREDITY

U2 - 10.1038/sj.ejhg.5201471

DO - 10.1038/sj.ejhg.5201471

M3 - Article

VL - 13

SP - 1121

EP - 1130

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 10

ER -