Editorial Team

Characterization of neuronal activity-dependent gene transcription regulation in human iPSC-derived neurons

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Reference: MJD350 Abstract: Cellular and molecular studies of the human brain are mostly performed on postmortem tissue or animal models. Recently however, induced pluripotent cell (iPSCs) technology has become a valuable tool that enables studies on live human iPSC-derived neurons, thus providing an alternative approach with clear advantages over animal models or postmortem tissue for … Read more

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

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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

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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

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