Mariateresa Zanobio
10PUBLICATIONS
58CO-AUTHORS
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Publications (10)
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|Oct 23, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.Pasquale Di Letto, Chiara De Leonibus, Francesca Pia Palmieri
|Jun 13, 2025
Myopathic Ehlers-Danlos Syndrome (mEDS) Related to COL12A1: Two Novel Families and Literature Review.Luciano Merlini, Patrizia Sabatelli, Vittoria Cenni
|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
|Mar 10, 2025
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.Pasquale Di Letto, Alberto Budillon, Sarah Iffat Rahman
|Jun 10, 2023
Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.Annalaura Torella, Alberto Budillon, Mariateresa Zanobio
|Feb 25, 2023
Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations.Cristina Peduto, Mariateresa Zanobio, Vincenzo Nigro
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Frequent Collaborators
7 joint publications
Giulio Piluso
4 joint publications
Annalaura Torella
3 joint publications
Pasquale Di Letto
3 joint publications
Vincenzo Nigro
2 joint publications
Margherita Scarpato
2 joint publications
Sarah Iffat Rahman
2 joint publications
Armando Cevenini
2 joint publications
Gaetano Terrone
2 joint publications
Gabriella Esposito
2 joint publications
Claudia Santoro
