2019

1. Identification of novel variants in ten patients with Hermansky-Pudlak syndrome by high-throughput sequencing

   Annals of Medicine, Vol. 51, Núm. 2, pp. 141-148

2. Molecular Diagnosis of Inherited Coagulation and Bleeding Disorders

   Seminars in Thrombosis and Hemostasis, Vol. 45, Núm. 7, pp. 695-707