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Mario Benvenuto

5PUBLICATIONS

26CO-AUTHORS

NeurogeneticsNeurology and neuromuscular diseasesGene mappingInnate immunityEpigenetics (incl. genome methylation and epigenomics)

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Publications (5)

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|May 04, 2026

A 350 kb <i>NEXMIF</i> Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome.

|Aug 29, 2024

The Biallelic Inheritance of Two Novel <i>SCN1A</i> Variants Results in Developmental and Epileptic Encephalopathy Responsive to Levetiracetam.

Giorgia Dinoi, Elena Conte, Orazio Palumbo

|Apr 27, 2024

Phenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in <i>KMT2E</i> Gene.

Mario Benvenuto, Sofia Cesarini, Giulia Severi

|Apr 04, 2024

Human leukocyte antigen variants associate with BNT162b2 mRNA vaccine response.

Martina Esposito, Francesca Minnai, Massimiliano Copetti

|Oct 28, 2023

Identification of a Novel <i>FOXP1</i> Variant in a Patient with Hypotonia, Intellectual Disability, and Severe Speech Impairment.

Mario Benvenuto, Pietro Palumbo, Ester Di Muro

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Frequent Collaborators

4 joint publications

Pietro Palumbo

4 joint publications

Orazio Palumbo

4 joint publications

Massimo Carella

2 joint publications

Ester Di Muro

1 joint publications

Tommaso Mazza

1 joint publications

Martina Esposito

1 joint publications

Massimiliano Copetti

1 joint publications

Raffaella Brugnoni

1 joint publications

Fulvio Baggi

1 joint publications

Elena Maria Grazia Corsini

Frequent Collaborators

4 joint publications

Pietro Palumbo

4 joint publications

Orazio Palumbo

4 joint publications

Massimo Carella

2 joint publications

Ester Di Muro

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