Annalaura Torella
Università degli Studi della Campania, "Luigi Vanvitelli"
62 papers found
Refreshing results…
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
Download from doi.orgClinical and Genetic Analysis of a European Cohort with Pericentral Retinitis Pigmentosa
Download from doi.orgCongenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
Download from link.springer.comA new family with transportinopathy: increased clinical heterogeneity
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