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Publications de Rusmini au CRS4

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Publications en 2023

Peer-reviewed publications in International Journals

[2-GRC23]

Whole genome sequencing in ROHHAD trios proved inconclusive: what’s beyond?

Alice Grossi, Marta Rusmini, Roberto Cusano, Matteo Massidda, ..., Paolo Uva, Isabella Ceccherini, . ...

Frontiers in Genetics Frontiersin - 2023 doi: 10.3389/fgene.2023.1031074

Publications en 2019

Peer-reviewed publications in International Journals

[2-GCR19]

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

Alice Grossi, Roberto Cusano, Marta Rusmini, F Penco, Francesca Schena, Rosa Anna Podda, Roberta Caorsi, Marco Gattorno, Paolo Uva, Isabella Ceccherini

Clinical Genetics - 2019

Various talks, works and publications

[6-GGC19]

ADA2 deficiency without ADA2 mutations explained by a structural homozygous variation in 22Q11.1

Alice Grossi, R Garbarino, Roberta Caorsi, Roberto Cusano, Marta Rusmini, F Penco, Francesca Schena, A Podda, Paolo Uva, Isabella Ceccherini, Marco Gattorno

Poster presentation at 10th Congress of ISSAID, International Society of Systemic Auto-Inflammatory Diseases, Genoa-Italy, 31 march-3 April 2019 - march 2019

Publications en 2018

Peer-reviewed publications in International Journals

[2-CR.18]

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

Roberta Caorsi, Marta Rusmini, ..., Paolo Uva, . ..., Isabella Ceccherini, Marco Gattorno

Frontiers In Immunology - january 2018 doi: doi.org/10.3389/fimmu.2017.02015

Publications en 2016

Various talks, works and publications

[6-R.U16]

Ricerca di geni coinvolti in immunodeficienze primarie (PID) e in malattie autoinfiammatorie (AIDs) tramite whole-exome sequencing

Marta Rusmini, ..., Paolo Uva, . ...

Poster presentation at XIX Congresso Nazionale SIGU, 23-16 Novembre 2016 - 2016 - november 2016

5 publications Download the selection