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Alessandro De Luca

28PUBLICATIONS
124CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene and molecular therapyDevelopmental genetics (incl. sex determination)Medical virology
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Journal

Publications (28)

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|Jan 08, 2026
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Andrea Gazzin, Marta Calvo, Federico Rondot

|Jan 25, 2025
Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Rita Selvatici, Valentina Guida, Massimo Maffei

|Jun 01, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.

Maria Lisa Dentici, Marcello Niceta, Francesca Romana Lepri

|Jun 01, 2024
Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.

Andrea Gazzin, Federico Fornari, Marcello Niceta

|May 25, 2024
Novel <i>ATP2A2</i> Gene Mutation c.118G>A Causing Keratinocyte and Cardiomyocyte Disconnection in Darier Disease.

Andrea Frustaci, Alessandro De Luca, Romina Verardo

|Nov 25, 2023
Novel Genetic Microvascular Dysplasia Causing Hypoperfusion of Cardiac, Renal, and Cerebral Circulation.

Andrea Frustaci, Rosario Cianci, Romina Verardo

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Frequent Collaborators

12 joint publications

Marco Tartaglia

5 joint publications

Laura Bernardini

4 joint publications

Chiara Leoni

4 joint publications

Marcello Niceta

3 joint publications

Eva Trevisson

3 joint publications

Gioia Mastromoro

3 joint publications

Hélène Cave

3 joint publications

Andrea Gazzin

3 joint publications

Valentina Guida

3 joint publications

Martin Zenker

Frequent Collaborators

12 joint publications

Marco Tartaglia

5 joint publications

Laura Bernardini

4 joint publications

Chiara Leoni

4 joint publications

Marcello Niceta

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