Muscular Dystrophy, Facioscapulohumeral
Nervous System Diseases
Neuromuscular Diseases
Muscular Diseases
Muscular Disorders, Atrophic
Muscular Dystrophies
Muscular Dystrophy, Facioscapulohumeral
1 articolo — 2025-2025
EL
Casi indimenticabili
La clinica: quando i geni hanno bisogno di un traduttore
Ferrara A
2025/9 — pag. 243-244 — DOI
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