Bartolomeo Augello

4PUBLICATIONS
9CO-AUTHORS
Optical technologyGene and molecular therapyGenetics not elsewhere classifiedCell and nuclear division
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (4)

|Nov 27, 2025
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.

Ludovico Graziani, Miriam Lucia Carriero, Salvatore Melchionda

|Jul 24, 2020
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation.

Carmela Fusco, Grazia Nardella, Bartolomeo Augello

|Nov 29, 2019
Novel TNXB Variants in Two Italian Patients with Classical-Like Ehlers-Danlos Syndrome.

Lucia Micale, Vito Guarnieri, Bartolomeo Augello

|Dec 29, 2017
Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature.

Francesca Romana Lepri, Dario Cocciadiferro, Bartolomeo Augello

Pageof 1

Frequent Collaborators

3 joint publications

Orazio Palumbo

2 joint publications

Lucia Micale

1 joint publications

Giuseppe Merla

1 joint publications

Tommaso Mazza