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Sex dimorphism in the relation between early adiposity and cardiometabolic risk in adolescentsBirth weight and childhood adiposity are associated with subsequent cardiovascular risk. We investigated the associations between metabolic clusters in young...
Research
Evaluation of a new measure of mood intolerance, the Tolerance of Mood States Scale (TOMS)This research aimed to (i) validate a new measure of mood intolerance, the Tolerance of Mood States (TOMS) scale, and (ii) to examine associations between...
Research
A descriptive study of the experiences of lesbian, gay and transgender parents accessing health services for their childrenThe aim of this study was to explore the experiences of lesbian, gay and transgender families accessing health care for their children.
We hypothesised that MECP2 mutations occur predominantly on the male derived X chromosome.
We wanted to describe the range and variability in the expression of symptoms in girls and women with Rett syndrome.
We compared the symptoms and genetic characteristics of girls with Rett syndrome and both with and without initial diagnosis of autism.
We described the occurrence of scoliosis in Rett syndrome, how it develops and how it is influenced by the individual's age, mutation type, and walking ability.
Twenty-five families of girls who underwent a spinal fusion between 2006-2012 were interviewed to explore the course of their daughter's recovery.
Many girls and women with Rett syndrome experience seizures. We wanted to know if there were any factors that influenced the age when seizures first developed.
We have recently developed recommendations to support clinical practice for gastro-intestinal disorders including growth and scoliosis in Rett syndrome.