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For this study, we examined how Rett syndrome characteristics can be affected by X-inactivation for 2 of the common types of mutation - p.R168X and p.T158M.
Research
Resourceful and creative methods are necessary to research rare disordersOur investigation used the infrastructure of InterRett, established in 2002 with dual aims of encour- aging international collaboration and ascertaining the...
The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.
We compared parent/carer-reported physical activities with the number of steps counted by an accelerometer in girls and women with Rett syndrome.
Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.
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News & Events
Global research for rare disorderThe Kids Research Institute Australia researchers set out on a worldwide search to find out all they could about Rett syndrome, establishing databases and creating awareness.
Research
Approaches to study the lifelong trajectories of children with neurodevelopmental conditionsWe argue that population-based studies are critical to overcome the selection bias seen in many clinical samples and to identify true variability within a...
Research
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathyThe clinical understanding of the CDKL5 disorder remains limited, with most information being derived from small patient groups seen at individual centres.