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The CDKL5 Disorder

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

Areas of research

With the help of clinicians and families who have children with Rett syndrome, our research aims to improve understanding of Rett syndrome.

Research

Common variants in the HLA-DRB1-HLA-DQA1 HLA class II region are associated with susceptibility to visceral leishmaniasis

A conditional analysis provided evidence for multiple associations within the HLA-DRB1-HLA-DQA1 region,and a model in which risk differed between three...

AussieRett

The Australian Rett Syndrome Study is based at The Kids Research Institute Australia located in Subiaco, Western Australia. This study was established in 1993.

InterRett

Funded by the International Rett Syndrome Foundation, this international online database examines the clinical features and genetic characteristics.

Refining the phenotype of common mutations

Using information from the Australian Rett Syndrome database, we coded symptoms according to severity scales and grouped by type and location of mutation.

Investigating genotype - phenotype relationships in Rett syndrome using an international database

This study used information from international Rett syndrome database to investigate the relationship between clinical characteristics and different mutations.

Research

Where were those rabbits? A new paradigm to determine cerebral lateralisation of visuospatial memory function in children

In the majority of people, functional differences are observed between the two cerebral hemispheres: language production is typically subserved by the left...

Research

Clinical investigation of respiratory system admittance in preschool children

We compared the ability of Ars, to standard oscillatory outcomes, to determine respiratory disease and differentiate responses to inhaled bronchial challenges.

Research

CNTNAP2 variants affect early language development in the general population

We tested the hypothesis that these CNTNAP2 variants affect communicative behavior, measured at 2 years of age in a large epidemiological sample...