Challenges of the use of next generation sequencing in clinical context: study in Rett syndrome and related neurodevelopmental phenotypes

Reference: HMSP-ICS/0017/2011 Abstract: n.a PROJECT DETAILS  beginning: 2011. end: n.a Country of research: Portugal Counry of funding source: United States Funding organization: Framework of the Cooperation Agreement between Portugal and Harvard Medical School – 2011 Financing: NATIONAL FUNDINGS – 0 € hyperlink

Creating conditions : the making and re-making of a genetic syndrome

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

Compiling a chromatin modification module for Intellectual Disability

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

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