From Guideline Database
This database contains updated guidelines, policies and recommendations on genomic research and practice, as provided by professional organizations, federal advisory groups, expert panels and policy groups.
- Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.
- Guidelines for incorporating scientific knowledge and practice on rare diseases into higher education: neuronal ceroid lipofuscinoses as a model disorder.
- Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations.
- Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.
Published 2014 ( International Union of Immunological Societies Expert Committee for Primary Immunodeficiency)
- A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.