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Showing results for "rett"

IASSIDD 15th World Congress

Our AussieRett team recently visited Melbourne, Australia for the IASSIDD 15th World Congress.

The phenotype associated with a large deletion on MECP2

Multiplex ligation-dependent Probe Amplification (MLPA) has become available for the detection of a large deletion on the MECP2 gene.

The natural history of the MECP2 Duplication disorder: Australian surveillance and plans for development of an international register

Helen Jenny Leonard Downs MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Head, Child Disability +61 419 956 946 08 6319 1763

Stereotypical hand movements

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

Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach

Family Functioning in Families with a Child with Down syndrome: A Mixed Methods Approach...