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New insight into Rett syndrome severityA research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
Research
Measuring use and cost of health sector and related care in a population of girls and young women with Rett syndromeThis study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic factors
Research
Pubertal trajectory in females with Rett syndrome: A population-based studyThe aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome.
Research
Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
Research
The trajectories of sleep disturbances in Rett syndromeThis paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
We wanted to assess bone mineral content and bone mass density in girls and women in our Australian study, and whether specific factors had any influence.
Research
A qualitative investigation of recovery after femoral fracture in Rett syndromeThis study used qualitative methods to investigate the regaining of mobility in 12 months following fractures in Rett syndrome and parent caregiver experiences.
Research
Longitudinal bone mineral content and density in Rett syndrome and their contributing factorsBone mass and density are low in females with Rett syndrome.
Research
CAGE-defined promoter regions of the genes implicated in Rett SyndromeA comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome