Maria Elena Onore
6PUBLICATIONS
24CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Dec 30, 2025
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP.Maria Elena Onore, Martina Caiazza, Catia Mio
|May 15, 2025
Deletion Testing of the DEGS1 Gene Should Be Part of the Diagnostic Pipeline for Hypomyelinating Leukodystrophy (HLD18).Mariateresa Zanobio, Francesca Nardecchia, Gerarda Cappuccio
|Apr 27, 2024
Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in the KCNJ2 Gene-A New Family Case Report.Maria Elena Onore, Esther Picillo, Paola D'Ambrosio
|Jan 23, 2024
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome.Maria Elena Onore, Martina Caiazza, Antonella Farina
|Jan 21, 2023
Spectrum of Genetic Variants in the Dystrophin Gene: A Single Centre Retrospective Analysis of 750 Duchenne and Becker Patients from Southern Italy.Emanuela Viggiano, Esther Picillo, Luigia Passamano
|Dec 23, 2022
Bi-Allelic DES Gene Variants Causing Autosomal Recessive Myofibrillar Myopathies Affecting Both Skeletal Muscles and Cardiac Function.Maria Elena Onore, Marco Savarese, Esther Picillo
Pageof 1
Frequent Collaborators
4 joint publications
Giulio Piluso
3 joint publications
Luisa Politano
2 joint publications
Annalaura Torella
2 joint publications
Martina Caiazza
2 joint publications
Gioacchino Scarano
2 joint publications
Giuseppe Limongelli
2 joint publications
Pasquale Di Letto
1 joint publications
Marco Savarese
1 joint publications
Alberto Budillon
1 joint publications
Mariateresa Zanobio
