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List of works by Silvia Majore

Absence of hepcidin gene mutations in 10 Italian patients with primary iron overload

scientific article (publication date: February 2002)

Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome

scientific article published on 28 December 2020

Disorders of sex development: a genetic study of patients in a multidisciplinary clinic

scientific article

Human RSPO1/R-spondin1 is expressed during early ovary development and augments β-catenin signaling

scientific article

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome

scientific article

Prediction and visualization data for the interpretation of sarcomeric and non-sarcomeric DNA variants found in patients with hypertrophic cardiomyopathy.

scientific article

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

scientific article

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