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You searched for: Author/Creator Farini, Maria

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1. A Novel Mutation of VPS33B Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype. (24th September 2020)

2. Lethal COG6‐CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?. Issue 2 (19th January 2022)