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

R. Hastings; T. Charman; T.C. Neilson; V. Mash; H. Archer; M.T. Gardiner; G.P. Knudsen; A. McDonnell; J. Perry; S.D. Whatley; D.J. Bunyan; K. Ravn; R.H. Mount; R.P. Hastings; M. Hulten; K.H. Orstavik; S. Reilly; H. Cass; A. Clarke; A.M. Kerr; M.E. Bailey

doi:10.1038/sj.ejhg.5201471

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

R. Hastings
, T. Charman
, T.C. Neilson
, V. Mash
, H. Archer
, M.T. Gardiner
, G.P. Knudsen
, A. McDonnell
, J. Perry
, S.D. Whatley
, D.J. Bunyan
, K. Ravn
, R.H. Mount
, R.P. Hastings
, M. Hulten
, K.H. Orstavik
, S. Reilly
, H. Cass
, A. Clarke
, A.M. Kerr

M.E. Bailey

Allbwn ymchwil: Cyfraniad at gyfnodolyn › Erthygl › adolygiad gan gymheiriaid

Iaith wreiddiol	Saesneg
Tudalennau (o-i)	1121-1130
Cyfnodolyn	European Journal of Human Genetics
Cyfrol	13
Rhif cyhoeddi	10
Dynodwyr Gwrthrych Digidol (DOIs)	https://doi.org/10.1038/sj.ejhg.5201471
Statws	Cyhoeddwyd - 1 Hyd 2005

Mynediad at Ddogfen

10.1038/sj.ejhg.5201471

Dyfynnu hyn

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

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

keywords = "BIOCHEMISTRY \& MOLECULAR BIOLOGY, GENETICS \& HEREDITY",

author = "R. Hastings and T. Charman and T.C. Neilson and V. Mash and H. Archer and M.T. Gardiner and G.P. Knudsen and A. McDonnell and J. Perry and S.D. Whatley and D.J. Bunyan and K. Ravn and R.H. Mount and R.P. Hastings and M. Hulten and K.H. Orstavik and S. Reilly and H. Cass and A. Clarke and A.M. Kerr and M.E. Bailey",

year = "2005",

month = oct,

day = "1",

doi = "10.1038/sj.ejhg.5201471",

language = "English",

volume = "13",

pages = "1121--1130",

journal = "European Journal of Human Genetics",

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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, cyfrol. 13, rhif 10, tt. 1121-1130. https://doi.org/10.1038/sj.ejhg.5201471

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

SN - 1018-4813

VL - 13

SP - 1121

EP - 1130

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -