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Showing results for "rett"

Our People

Learn more about our people - the dedicated researchers and staff working to address Rett syndrome, CDKL5 and other related disorders.

Atypical Presentations

We investigated the factors that may affect the age at diagnosis for girls and woman with Rett syndrome.

Areas of research

With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.

Publications

Publications from 2016 dating back to 1993 of AussieRett researchers, showing the research work into Rett syndrome and related disorders.

HBF Run for a Reason 2013

What a fabulous day we had on Sunday at the HBF Run for a Reason in Perth, where Rett syndrome was extremely well represented!

Large deletions of the MECP2 gene

We used multiplex ligation-dependent probe amplification to examine the MECP2 gene sequences in 149 girls and 1 boy.

Guidelines, reports and books

We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.

InterRett

Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics.