Reference: RES-145-28-1003 Abstract: Based on original ethnographic research with scientists, clinicians and families, this book examines Rett syndrome to illuminate more general issues concerning the construction and interpretation of diseases and syndromes. It derives from research with a specialist team of clinicians and scientists, and a series of families referred with a potential diagnosis of … Read more
Reference: 90700365 Abstract: Intellectual disability (ID) affects 2% of our population, but still most ID patients remain undiagnosed mainly due to the huge genetic heterogeneity. It has recently become clear that the complexity of ID genes can be understood in terms of ﾓmodulesﾔ of several genes acting together in a single biological pathway or complex. … Read more
Reference: INTAS-1997 1916 Abstract: n.a PROJECT DETAILS beginning: 1999. end: 2002. Country of research: United Kingdom, Sweden Counry of funding source: EU Funding organization: INTAS Financing: EU-CORDIS – 80 000 € hyperlink
Reference: ORPHA258004 Abstract: Rett syndrome (RS) is a neurological disorder primarily affecting girls, with an incidence of about 1/10,000 female births. It is a genetic disease, the second cause of severe mental retardation in women and a leading cause of postnatal neurodevelopmental regression. Rett syndrome is a model for autism-spectrum disorders and it is classified … Read more
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