Work

The Role of Whole‐Exome Sequencing and Methylation Analysis in Untangling Complex Facioscapulo‐Humeral Muscular Dystrophy Cases

Year: 2025

Type: article

Study design: Observational Study

Source: Clinical Genetics

DOI: 10.1111/cge.70044

Authors: Francesca Torri, Claudia Strafella, Liliana Vercelli, Giulio Gadaleta, Barbara Risi, Domenica Megalizzi, Luca Colantoni, Beatrice Ciurli, Mariaconcetta Rende, Massimiliano Filosto, Tiziana Mongini, Gabriele Siciliano, Emiliano Giardina, Giulia Ricci

Institutions: University of Pisa, Fondazione Santa Lucia, University of Turin, University of Brescia, University of Rome Tor Vergata

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Ministero dell'Università e della Ricerca

Award: G4827908143

OpenAlex ID: W4413101585

FWCI:

Cites: 46

Cited by:

Related to: 10