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From transfer to receipt: transition in neuromuscular disorders in the era of disease-modifying therapy
Oct 5, 2026
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Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
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AI-assisted recognition of misdiagnosed paroxysmal nocturnal hemoglobinuria
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Expanding the clinical spectrum of recessive CRX-associated retinal disease: an early-onset retinal dystrophy phenotype
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