E patient

Reference: Thomas Bertrand1 Abstract: Health is today the number 1 use of Internet. E patients are health consumers who use the internet to gather, share, produce information about a medical condition of particular interest to them. Health social networks are becoming an important entity of influence in the medicine of the future, as they are … Read more

Family outcomes

Reference: Danijela Vlajic Abstract: The European Project for Rare Diseases National Plans Development (EUROPLAN) has addressed one unanswered question to date: モwhat is the scope of patient-driven research?ヤ Identification of needs and priorities for translational and social research, modes of fostering them and promotion of interdisciplinary cooperative approaches has been largely recommended. Beside the success … Read more

Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of neuropsychiatric phenotypes that overlap

Reference: ORPHA319013 Abstract: Title: Genetic approach to Rett syndrome and its variants. Clinical and molecular characterization of overlapping neuropsychiatric phenotypes. Description: Since the discovery of MECP2 gene as mainly responsible for Rett Syndrome (SR) numerous studies have shown that there are mutations in this gene that does not produce the “classic”, but also in women … Read more

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