diagnostic tool/protocol development

Identifying Early Signs of Rett Syndrome and their Implications for Development

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Reference: R000238229 Abstract: Rett syndrome is a developmental disorder, almost exclusively affecting girls, which goes undetected in early infancy until a dramatic regression in development around 9-12 months. Although Rett syndrome is present from birth early signs of the disorder are difficult to detect. Family home videos, taken before the childﾒs problems were recognised, offer … Read more

CHERISH (Improving diagnoses of mental retardation in children in central eastern Europe and central Asia through genetic characterisation and bioinformatics / statistics)

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Reference: 223692 Abstract: Mental retardation (MR) is a highly heterogeneous disorder and is of genetic origin in about 50% of the cases. Despite recent progress in research the causes and the pathophysiology of MR remains obscure. It is essential to investigate this in order to develop future diagnostic and therapeutic strategies. The overall goal of … Read more

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