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List of works by Valentina Citro

A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype

scientific article

Challenging popular tools for the annotation of genetic variations with a real case, pathogenic mutations of lysosomal alpha-galactosidase

scientific article published on 30 November 2018

Data on the inhibition of cell proliferation and invasion by the D2A-Ala peptide derived from the urokinase receptor

scientific article published on 09 January 2019

Drug repositioning can accelerate discovery of pharmacological chaperones

scientific article published on 7 May 2015

E-Learning for Rare Diseases: An Example Using Fabry Disease

scientific article published on 24 September 2017

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

scientific article published on 20 December 2017

Jagged Ligands Enhance the Pro-Angiogenic Activity of Multiple Myeloma Cells

scientific article published on 11 September 2020

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

scientific article published on 01 January 2020

The Analysis of Variants in the General Population Reveals That Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers

scientific article published on 30 July 2018

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