K. Ravn

Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype–phenotype associations in Rett syndrome (2005)

Charman, T., Neilson, T.C.S., Mash, V., Archer, H., Gardiner, M.T., Knudsen, G.P.S., ...

We aimed to improve the understanding of genotype–phenotype correlations in Rett syndrome (RS) by adopting a novel approach to categorising phenotypic dimensions – separating typicality of...

Early onset seizures and Rett-like features associated with mutations in CDKL5. (2005)

Clarke, Angus John, Archer, H.L., Evans, J., Ravn, K.

Early onset seizures and Rett-like features associated with mutations in CDKL5. (2005)

Clarke, Angus John, Archer, H.L., Evans, J., Ravn, K.

Early onset seizures and Rett-like features associated with mutations in CDKL5 (2005)

Evans, J., Archer, H., Colley, J. P., Ravn, K., Nielsen, J. B., Kerr, A., ...

Early onset seizures and Rett-like features associated with mutations in CDKL5 (2005)

Evans, J., Archer, H., Colley, J. P., Ravn, K., Nielsen, J. B., Kerr, A., ...

No correlation between phenotype and genotype in boys with a truncating MECP2 mutation

Ravn, K, Nielsen, J, Uldall, P, Hansen, F, Schwartz, M

A thorough MECP2 mutation analysis

Ravn, K, Nielsen, JB