Eva Trevisson

Italy

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Articles (13)

Year:

2024

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2024

Year:

2024

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2022

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2022

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2021

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2021

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2021

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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

Collaborators (15)

Alicia Bach

Assistant Professor

University of Missouri

UNITED STATES

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David Markie

University of Otago

NEW ZEALAND

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ANNA RAFFAELLO

Associate Professor

University of Padua

ITALY

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Raffaele Parrozzani

Professor of Ophthalmology

University of Padova

ITALY

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Maria Andrea Desbats

Assistant Professor

University of Padua

ITALY

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Maria Jose Herrero

University of Valencia

SPAIN

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Matteo Cassina

MD, Associate Professor in Medical Genetics

University of Padova

ITALY

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Marwan shinawi

Professor

Washington University in Saint Louis School of Medicine

UNITED STATES

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Sirkku Peltonen

SWEDEN

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Rosa Noguera

SPAIN

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Carlo Zanon

ITALY

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Gloria Teresa Brea Calvo

Profesor Contratado Doctor Temporal

Universidad Pablo de Olavide

SPAIN

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Vincenzo Vindigni

Associate Professor of Plastic and Reconstructive Surgery

University of Padova

ITALY

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Luisa Frizziero

University of Padova

ITALY

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Matthew Hunter

Head of Department

Monash Health

AUSTRALIA

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Eva Trevisson

Research Interests

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Articles (13)

A Misdiagnosed Familiar Brooke–Spiegler Syndrome: Case Report and Review of the Literature

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms

Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study

The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation

Wilms tumor in patients with osteopathia striata with cranial sclerosis

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study

Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of <i>NF1</i> Variants

Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study

Collaborators (15)

Alicia Bach

David Markie

ANNA RAFFAELLO

Raffaele Parrozzani

Maria Andrea Desbats

Maria Jose Herrero

Matteo Cassina

Marwan shinawi

Sirkku Peltonen

Rosa Noguera

Carlo Zanon

Gloria Teresa Brea Calvo

Vincenzo Vindigni

Luisa Frizziero

Matthew Hunter

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