Last Posted: Jan 18, 2018
- A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network.
Reuter Chloe M et al. The Journal of pediatrics 2018 Jan
- Rare disease prevention and treatment: the need for a level playing field.
Hughes Dyfrig A et al. Pharmacogenomics 2018 Jan
- The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study.
Dragojlovic Nick et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Jan
- Non-invasive test using palmitate in patients with suspected fatty acid oxidation defects: disease-specific acylcarnitine patterns can help to establish the diagnosis.
Janzen Nils et al. Orphanet journal of rare diseases 2017 Dec 12(1) 187
- The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge Data.
Kodra Yllka et al. Journal of public health (Oxford, England) 2017 Dec
- Cost-Effectiveness Methods and Newborn Screening Assessment.
Castilla-Rodríguez I et al. Advances in experimental medicine and biology 2017 1031267-281