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Human blood cell traits and sporadic lymphangioleiomyomatosis: results from mediation joint multi-omics and eQTL Mendelian randomization analysis.
Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity.
Progressive subcortical involvement as spinocerebellar ataxia type 3 advances.
Rare disease 101: an online resource teaching on over 7000 rare diseases in one short course.
Cost-of-illness studies of inherited retinal diseases: a systematic review.
🥇 Revisão sistemática