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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.

Research

The epidemiological, prognostic, and therapeutic features of child and adolescent meningioma are poorly defined...

News & Events

A new ongoing Q & A series focusing on different research themes within the Children’s Diabetes Centre - focus: exercise team.

News & Events

A new Q&A series focusing on the different research themes within the Children’s Diabetes Centre - technology.