A 20-Year Journey of Tracing the Development of Web Catalogues for Rare Diseases
Author:
Publisher
Springer Nature Switzerland
Link
https://link.springer.com/content/pdf/10.1007/978-3-031-34960-7_12
Reference39 articles.
1. Schaaf, J., Sedlmayr, M., Schaefer, J., Storf, H.: Diagnosis of rare diseases: a scoping review of clinical decision support systems. Orphanet J. Rare Dis. 15(1), 1–14 (2020)
2. Ferreira, C.R.: The burden of rare diseases. Am. J. Med. Genet. A 179(6), 885–892 (2019)
3. Bick, D., Jones, M., Taylor, S.L., Taft, R.J., Belmont, J.: Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases. J. Med. Genet. 56(12), 783–791 (2019)
4. Stoller, J.K.: The challenge of rare diseases. Chest 153, 1309–1314 (2018)
5. Griggs, R.C., et al.: Clinical research for rare disease: opportunities, challenges, and solutions. Mol. Genet. Metab. 96, 20–26 (2009)
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