Francesco Caroli

Op. Prof. Tecnico Laboratorio Biomedico

Istituto Giannina Gaslini

Italy

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About

Francesco Caroli is an Op. Prof. Tecnico Laboratorio Biomedico at Istituto Giannina Gaslini, Italy. His research interests focus on genetic disorders and immunological diseases, as evidenced by his recent publications that explore areas such as Next Generation Sequencing, neurofibromatosis, and autoinflammatory diseases. He is involved in advancing understanding of genotype-phenotype correlations and rare genetic variants impacting patient health.

Articles (10)

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2023

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2023

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2022

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2021

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2021

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2021

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2020

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2020

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2020

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2020

Collaborators (5)

Mohamad Maghnie

University of Genoa

ITALY

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Paolo Scudieri

University of Genoa

ITALY

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Antonio Verrico

Istituto Giannina Gaslini

ITALY

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alessandro salina

Istituto Giannina Gaslini

ITALY

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Isabella Ceccherini

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Istituto Giannina Gaslini

ITALY

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Francesco Caroli

Research Interests

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Articles (10)

Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus

Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients

Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA)

Erratum: Clinical characteristics of patients carrying the Q703K variant of the NLRP3 gene: A 10-year multicentric national study (Journal of Rheumatology (2016) 43 (1093-100) DOI: 10.3899/jrheum.150962)

Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study (vol 43, pg 1093, 2016)

Collaborators (5)

Mohamad Maghnie

Paolo Scudieri

Antonio Verrico

alessandro salina

Isabella Ceccherini

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