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Therefore, we wanted to compare the features of girls and women with a C-terminal deletion with those with other MECP2 mutations.

We investigated the occurrence of altered pain sensitivity as well as how these altered reactions to pain were observed during daily life.

We compared information on the life expectancy of Dr Rett's original group in 1966 with information in the Australian Rett Syndrome Database.

We investigated the occurrence of different types of hand stereotypies and whether they were more frequent in one hand or the other.

In order to help doctors and families reduce the risk of fractures, we developed clinical guidelines for managing bone health in Rett syndrome.

One of the many reasons for setting up the International CDKL5 Disorder Database was to learn more about this condition.

While individual diseases are rare, as a group, rare diseases are common. Recent estimates suggest that between 3% and 6% of the world’s population are affected by rare disease.

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If there’s one thing modern researchers and health professionals now understand, it’s that for so many diseases and conditions affecting children and adolescents, early intervention is crucial.

Join a Focus Group for the Sibling Support Study! Researchers from The Kids Research Institute Australia are conducting research which explores the

Be involved in the Sibling Snapshot Project! Researchers from The Kids Research Institute Australia are conducting research which explores the unique