Luciana Musante
6PUBLICATIONS
44CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (6)
Sort by Publication Date:
|Jan 08, 2025
In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder.Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm
|Feb 25, 2023
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders.Mariateresa Di Stazio, Caterina Zanus, Flavio Faletra
|Nov 11, 2022
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures.Beatrice Spedicati, Anna Morgan, Giulia Pianigiani
|Jun 07, 2022
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.Luciana Musante, Flavio Faletra, Kolja Meier
|Mar 25, 2022
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge.Luciana Musante, Paola Costa, Caterina Zanus
|Feb 25, 2022
Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.Alessandro Orsini, Andrea Santangelo, Francesca Bravin
Pageof 1
Frequent Collaborators
5 joint publications
Caterina Zanus
5 joint publications
Flavio Faletra
4 joint publications
Giorgia Girotto
3 joint publications
Anna Morgan
2 joint publications
Adamo P d'Adamo
2 joint publications
Agnese Feresin
2 joint publications
Flora Maria Murru
1 joint publications
Diego Peroni
1 joint publications
Anna Laura Torella
1 joint publications
Marcello Scala
