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Guide our sibling research!
Our research covers a broad range of areas from the influence of mutation type on health outcomes to factors impacting on the lives of familes.
Regression, including the loss of previously learned skills, such as hand function and communication skills, is one of the most suggestive features of Rett synd
Our study investigated the quality of measurements obtained using the Rett Syndrome Gross Motor Scale.
We wanted to compare the frequency of fracture episodes, and factors associated with a fracture, in females with Rett syndrome, compared to general population.
Our study investigated the impacts of spinal fusion on survival and the risk of developing respiratory infections in females with Rett syndrome.
We wanted to examine the effects of spinal fusion surgery to treat scoliosis on the functional abilities of girls and women with Rett syndrome.
Research
Early development and regression in Rett syndromeOur findings provide additional insight into the early clinical profile of Rett syndrome.
Research
Community participation: Conversations with parent-Carers of young women with Rett syndromeIn this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
Research
The phenotype associated with a large deletion on MECP2Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.