Résultats de la recherche

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Diagnostic et histoire naturelle de la dystrophie musculaire de Duchenne. [Diagnosis and natural history of Duchenne muscular dystrophy]
Rare ACTG1 variants in fetal microlissencephaly
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1