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Hector, Ralph D., Kalscheuer, Vera M., Hennig, Friederike, Leonard, Helen, Downs, Jenny, Clarke, Angus ORCID: https://orcid.org/0000-0002-1200-9286, Benke, Tim A., Armstrong, Judith, Pineda, Mercedes, Bailey, Mark E.S. and Cobb, Stuart R. 2017. CDKL5 variants Improving our understanding of a rare neurologic disorder. Neurology Genetics 3 (6) , e200. 10.1212/NXG.0000000000000200
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Clarke, Angus John ORCID: https://orcid.org/0000-0002-1200-9286, Archer, Hayley Louise, Leonard, Helen and Evans, Julie 2007. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X chromosome inactivation. Journal of Medical Genetics 44 (2) , pp. 148-152. 10.1136/jmg.2006.045260

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