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Fingerprint Dive into the research topics where Marta Rusmini is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 6 Similar Profiles
Mutation Medicine & Life Sciences
Exome Medicine & Life Sciences
Fever Medicine & Life Sciences
Pseudoxanthoma Elasticum Medicine & Life Sciences
Epstein-Barr Virus Infections Medicine & Life Sciences
Genes Medicine & Life Sciences
Colchicine Medicine & Life Sciences
Human Herpesvirus 4 Medicine & Life Sciences

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Research Output 2018 2020

Colchicine
Fever
Genes
Steroids
Molecular Pathology

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

Grossi, A., Cusano, R., Rusmini, M., Penco, F., Schena, F., Podda, R. A., Caorsi, R., Gattorno, M., Uva, P. & Ceccherini, I., Jun 2019, In : Clinical Genetics. 95, 6, p. 732-733 2 p.

Research output: Contribution to journalArticle

Exome
Psoriasis
Mutation
Pityriasis Rubra Pilaris
Genes

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

Gaslini Pediatric Stroke Group, Jul 2018, In : European Journal of Paediatric Neurology. 22, 4, p. 725-728 4 p.

Research output: Contribution to journalArticle

Pseudoxanthoma Elasticum
Eye Manifestations
Angioid Streaks
Stroke
Skin Manifestations
Epstein-Barr Virus Infections
Human Herpesvirus 4
Lymphadenitis
Fever
Mutation