Loreto Martorell
Hospital Sant Joan de Déu
103 papers found
Refreshing results…
The phenotype and genotype of congenital myopathies based on a large pediatric cohort
UploadOkur‐Chung neurodevelopmental syndrome in a patient from Spain
Download from api.wiley.comDeep‐intronic variants in CNGB3 cause achromatopsia by pseudoexon activation
Download from onlinelibrary.wiley.comSalbutamol tolerability and efficacy in patients with spinal muscular atrophy type II
UploadMRX93 syndrome ( BRWD3 gene): five new patients with novel mutations
Download from api.wiley.comClinical rating scale for pantothenate kinase-associated neurodegeneration: A pilot study
UploadMaternal mutations ofFOXF1cause alveolar capillary dysplasia despite not being imprinted
Download from api.wiley.comCancer risk in DM1 is sex-related and linked to miRNA-200/141 downregulation
UploadMissing publications? Search for publications with a matching author name.