Massimiliano Rossi

Université Claude Bernard Lyon 1

France

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Articles (10)

Year:

2024

Year:

2024

Year:

2023

Year:

2023

Year:

2023

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2023

Year:

2023

Year:

2023

Year:

2022

Year:

2022

Collaborators (17)

Claire-Sophie Davoine

Institut du Cerveau et de la Moelle Épinière

FRANCE

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Ludger Schöls

Section head

Eberhard Karls Universität Tübingen

GERMANY

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Sandrine PASSEMARD

Université Paris Cité

FRANCE

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Sarah Weckhuysen

Associate Professor

University of Antwerp

BELGIUM

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Pamela Banta Lavenex

Professor

SWITZERLAND

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Andrea Samson

Associate Professor

SWITZERLAND

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Giovanni Stevanin

Directeur d'Etudes Cumulant (Professor)

École Pratique des Hautes Études

FRANCE

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Véronique Pingault

FRANCE

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Marek Turnovec

University Hospital in Motol

CZECH REPUBLIC

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Manuel Posada

Senior Research Full Professor, Rare Diseases Research Institute, ISCIII

Instituto de Salud Carlos III

SPAIN

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Mridul Johari

University of Helsinki

FINLAND

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Mars Skae

The University of Manchester

UNITED KINGDOM

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Siddharth Banka

The University of Manchester

UNITED KINGDOM

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jean Pierre SALLES

Professor

Université de Toulouse

FRANCE

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Thomas Smol

FRANCE

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Yves Sznajer

Head and Coordinator

Cliniques Universitaires Saint-Luc

BELGIUM

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Gisèle Bonne

INSERM

FRANCE

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Massimiliano Rossi

Research Interests

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Articles (10)

Elastin turnover in Williams–Beuren and 7q11.23 microduplication syndromes

Long-term follow-up of severe autosomal recessive SP7-related bone disorder

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions

Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

Clinical interest of molecular study in cases of isolated midline craniosynostosis

GGCX ‐related congenital combined vitamin K‐dependent clotting factors deficiency‐1: Description of a fetus with chondrodysplasia punctata

Infigratinib in children with achondroplasia: the PROPEL and PROPEL 2 studies

Collaborators (17)

Claire-Sophie Davoine

Ludger Schöls

Sandrine PASSEMARD

Sarah Weckhuysen

Pamela Banta Lavenex

Andrea Samson

Giovanni Stevanin

Véronique Pingault

Marek Turnovec

Manuel Posada

Mridul Johari

Mars Skae

Siddharth Banka

jean Pierre SALLES

Thomas Smol

Yves Sznajer

Gisèle Bonne

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