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List of works by Marta Rusmini

A complementary study approach unravels novel players in the pathoetiology of Hirschsprung disease

scientific article published on 05 November 2020

ABCC6 mutations and early onset stroke: Two cases of a typical Pseudoxanthoma Elasticum

ADA2 deficiency due to a novel structural variation in 22q11.1.

scientific article published on 28 March 2019

Association of pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH) shares genetic and cytokine profiles with other autoinflammatory diseases

scientific article

CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.

scientific article published in January 2017

Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases.

scientific article published on 17 September 2015

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