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This study determined the prevalence of cholelithiasis and/or cholecystectomy in Rett syndrome, described gallbladder function in a clinical cohort, and...
In this paper, the issue of people with profound intellectual and multiple disabilities facing significant challenges to participating in their community is...
Families participating in the population-based and longitudinal Australian Rett Syndrome Database whose daughter had undergone spinal fusion provided data on...
Imagine your baby is developing normally, then suddenly she starts losing skills. Watch Marlee's story below and find out what researchers are doing.
The 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.
The first comprehensive analysis of the clinical effects of genetic mutations involved in Rett syndrome
A Perth medical researcher responsible for major advancements in the understanding of the neurological disorder Rett syndrome has had her efforts recognised
The internet is emerging as a valuable tool for scientists to gather data for critical research into rare diseases.
Fourteen of 74 Chinese families known to the International Rett Syndrome Phenotype Database participated in this qualitative study.
The diagnosis of a rare disorder is dependent on the clinician's particular knowledge and experience, and can be challenging when the presentation is variable.