Documentos relacionados

1. [Clinical diagnostic techniques for rare genetic diseases in children: current status, advances, and thoughts].
2. Inborn errors of immunity: an expanding universe of disease and genetic architecture.
3. Dental abnormalities in rare genetic bone diseases: Literature review.
4. Continuing a search for a diagnosis: the impact of adolescence and family dynamics.
5. [Principles of the diagnostics of inborn errors of immunity].
6. [Expert recommendations on homogenization management of the diagnosis and treatment of rare diseases in children].
7. The RareDis corpus: A corpus annotated with rare diseases, their signs and symptoms.
8. Gene-disease relationship evidence: A clinical perspective focusing on ultra-rare diseases.
9. Integrative omics approaches to advance rare disease diagnostics.
10. Phenotype-aware prioritisation of rare Mendelian disease variants.