Last Posted: Aug 17, 2017
- Future of Rare Diseases Research 2017-2027: an IRDiRC Perspective
Austin Christopher P et al. Clinical and translational science 2017 Aug
- Settling the score: variant prioritization and Mendelian disease
K Eilbeck et al, Nature Rev Genetics, August 2017
- Future of Rare Diseases Research 20172027: an IRDiRC Perspective
CP Austin, Clin Trans Science, August 10, 2017
- European Reference networks for rare diseases: what is the conceptual framework?
Héon-Klin Véronique et al. Orphanet journal of rare diseases 2017 Aug 12(1) 137
- The ethical framework for performing research with rare inherited neurometabolic disease patients.
Giannuzzi Viviana et al. European journal of pediatrics 2017 Mar 176(3) 395-405
- Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.
Leinøe Eva et al. British journal of haematology 2017 Jul
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