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Paradoxically, rare diseases are common, collectively affecting 6-10% of the population and have a huge impact on patients and families, health services,...

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate...

This study describes the impact of having a sibling with Down syndrome or Rett syndrome using a questionnaire completed by parents.

Demonstrate mucosal bacterial infection in children with otitis media with effusion (OME).

The aims of this study were to compare the early and subsequent clinical courses of female subjects with Rett syndrome categorised by whether...

The goals were to compare the fracture incidence in Rett syndrome with that in the general population and to investigate the impact of genotype, epilepsy,...

Cervical cancer mortality has been reduced in Australia because of effective screening programs, but there are still about 800 new cases...

Effective antitumor CD8 T cell responses may be activated by directly targeting the innate immune system within tumors.

The number of obese children with insulin resistance and type 2 diabetes is increasing, but the best management strategy is not clear.