I. Cusco
Fundació de Gestió Sanitària de l'Hospital de la Santa Creu i Sant Pau
44 papers found
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Improved diagnosis of rare disease patients through systematic detection of runs of homozygosity
UploadReply to “Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0”
UploadSevere brain involvement in 5q spinal muscular atrophy type 0
Download from onlinelibrary.wiley.comEvaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond
Download from doi.orgDNA methylation abnormalities in congenital heart disease
Download from europepmc.orgMissing publications? Search for publications with a matching author name.