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Characterisation of the wound microbiome and antimicrobial resistance profiles in clinical isolates from epidermolysis bullosa patients.
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant.
The Human Phenotype Ontology in 2024: phenotypes around the world.
Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.
Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China.