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        Investigating genotype - phenotype relationships in Rett syndrome using an international database

        Article title Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H. ...

        Refining the phenotype of common mutations

        Article title Colvin, L., Leonard, H., De Klerk, N.,Davis, M., Weaving, L., Williamson, S., & Christodoulou, J. (2004). Refining the phenotype of ...

        Updating the profile of C-terminal MECP2 deletions

        Article title Bebbington, A, Percy, A, Christodoulou, J, Ravine, D, Ho, G, Jacoby, P, Anderson, A, Pineda, M, Ben Zeev, B, Bahi-Buisson, N, Smeets, E ...

        Linking MECP2 and pain sensitivity

        Article title Downs, J, Geranton, SM, Bebbington, A, Jacoby, P, Bahi-Buisson, N, Ravine, D & Leonard, H 2010, 'Linking MECP2 and pain sensitivity: ...

        Survival with Rett syndrome

        Article title Freilinger, M, Bebbington, A, Lanator, I, Klerk, ND, Dunkler, D, Seidl, R, Leonard, H & Ronen, GM 2010. Survival with Rett syndrome: ...

        Stereotypical hand movements

        Article title Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Stereotypical hand movements in 144 subjects with Rett ...

        Clinical guidelines for management of bone health in Rett syndrome based on expert consensus and available evidence

        Article title Jefferson A, Leonard H, Siafarikas A, Woodhead H, Fyfe S, Ward LM, et al. (2016) Clinical Guidelines for Management of Bone Health in ...

        Resources

        These resources include the best available evidence about the course of Rett syndrome and its management as well as practical information about family associations, specialist clinical centres and links to relevant websites. ...

        Search our databases

        Contact Us To find out any more information about how you can be involved, don't hesitate to contact us. Email: Helen.Leonard@telethonkids.org.au  ...

        Planning opportunities for uptime

        Step 1. Assess what activities could be possible Step 2. Understand why the uptime activities are important for the person Step 3. Set your goals ...

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