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Publications by Rosário Santos

Ryanodine Myopathies Without Central Cores—Clinical, Histopathologic, and Genetic Description of Three Cases

Pediatric Neurology

Developmental Neuroscience

English

Classical Fragile-X Phenotype in a Female Infant Disclosed by Comprehensive Genomic Studies

BMC Medical Genetics

English

Novel Synonymous Substitution in POMGNT1 Promotes Exon Skipping in a Patient With Congenital Muscular Dystrophy

Journal of Human Genetics

English

Hematologically Important Mutations: Shwachman–Diamond Syndrome

Blood Cells, Molecules, and Diseases

Molecular Medicine

Molecular Biology

English

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