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Publications by Stefania Zampieri
Mechanistic Convergence and Shared Therapeutic Targets in Niemann‐Pick Disease Type C and Tangier Disease
Journal of Inherited Metabolic Disease
Genetics
Effects of Miglustat Treatment in a Patient Affected by an Atypical Form of Tangier Disease
Orphanet Journal of Rare Diseases
Medicine
Genetics
Pharmacology
Characterization of a Spontaneous Novel Mutation in the NPC2 Gene in a Cat Affected by Niemann Pick Type C Disease
PLoS ONE
Multidisciplinary
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Sequencing Studies in Human Genetics: Design and Interpretation
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