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
Reference: 253110 Abstract: Insults during the perinatal stage of brain development lead to major causes of neurological disability throughout life, ranging from motor deficits, cognitive limitations, learning difficulties and even severe disabilities, such as cerebral palsy. In term newborn infants, hypoxic-ischemic (HI) brain injury is the most common cause of encephalopathy and seizures. Despite major … Read more
Reference: 503433 Abstract: In this ‘post-genomic’ era, advances in epigenetic research represent a new frontier that is predicted to yield novel insights for gene regulation, cell differentiation, stem cell plasticity, organismal development, human diseases, cancer, infertility and aging. A central emerging concept proposes that there is an ‘epigenetic code’, which considerably extends the information potential … Read more
Reference: 261123 Abstract: We are committed to gaining insights into the human genome and its role in health and medicine by sharing data, experience and expertise in high-throughput sequencing. The purpose of this website is to keep you up to date with the project, and to help you find accessible information about genomics and personalised … Read more
By continuing to use the site, you agree to the use of cookies. more information
The cookie settings on this website are set to "allow cookies" to give you the best browsing experience possible. If you continue to use this website without changing your cookie settings or you click "Accept" below then you are consenting to this.
