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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.
This study assessed factors that could influence equipment and respite services use among Australian families caring for a girl/woman with Rett syndrome and...
This study describes the attainment of gross developmental milestones and regression, and assesses the relationships between genotype and age at diagnosis.
This study measured use and cost of health sector and related services in Rett syndrome and effects of socio-demographic, clinical severity and genetic...
There is often delay between onset of Rett syndrome symptoms and its diagnosis, possibly related to symptom presentation or socio-demographic factors.
Rett syndrome is a severe neurodevelopmental disorder that typically affects females. Little is known about the natural history and survival time of these femal
We investigated relationships between hand function and genotype and aspects of phenotype in Rett syndrome
This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome.