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Generation and characterization of a novel Gaa compound heterozygous mouse model recapitulating human Pompe disease.
Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III.
Leveraging the UMLS As a Data Standard for Rare Disease Data Normalization and Harmonization.
Impact of the therapeutic positioning report in the P&R process in Spain: analysis of orphan drugs approved by the European Commission and reimbursed in Spain from 2003 to 2019.