Renata Bocciardi
12PUBLICATIONS
44CO-AUTHORS

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Publications (12)
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|Feb 12, 2025
LMX1B haploinsufficiency due to variants in the 5'UTR as a cause of Nail-Patella syndrome.Serena Cappato, Maria Teresa Divizia, Ludovica Menta
|May 27, 2023
Next Generation Sequencing (NGS) Target Approach for Undiagnosed Dysglycaemia.Concetta Aloi, Alessandro Salina, Francesco Caroli
|Apr 13, 2023
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.Vito Terlizzi, Emanuela Pesce, Valeria Capurro
|Mar 25, 2022
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.Elvira Sondo, Federico Cresta, Cristina Pastorino
|Aug 04, 2021
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.Serena Cappato, Rasa Traberg, Jolita Gintautiene
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Frequent Collaborators
2 joint publications
Riccardo Gamberale
2 joint publications
Silvia Brunelli
2 joint publications
Nicoletta Pedemonte
2 joint publications
Carlo Castellani
2 joint publications
Valeria Tomati
2 joint publications
Francesco Caroli
1 joint publications
Serena Cappato
1 joint publications
Vaclav Brazda
1 joint publications
Natália Bohálová
1 joint publications
Alberto Inga