All Stories

  1. Sitosterolemia: Diagnosis, Metabolic and Hematological Abnormalities, Cardiovascular Disease and Management
  2. Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing
  3. Top-level sport in athletes with severe haemophilia A
  4. Design and application of a 23-gene panel by next-generation sequencing for inherited coagulation bleeding disorders