Mattia Carvetta
7PUBLICATIONS
36CO-AUTHORS
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Publications (7)
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|Mar 14, 2026
A Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.Emilia Stellacci, Lucia Ziccardi, Alessandro Bruselles
|Oct 29, 2025
The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles.Cecilia Mancini, Luigi Chiriatti, Alessandro Bruselles
|Sep 13, 2025
Biallelic BAIAP3 Variants Are Associated with Isolated Retinitis Pigmentosa.Viviana Cordeddu, Elisabetta Flex, Luca Mignini
|Apr 17, 2025
Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1.Lucia Ziccardi, Lucilla Barbano, Mattia D'Andrea
|Feb 26, 2025
Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants.Alessandro Bruselles, Cecilia Mancini, Luigi Chiriatti
|Feb 26, 2025
The Arg99Gln Substitution in HNRNPC Is Associated with a Distinctive Clinical Phenotype Characterized by Facial Dysmorphism and Ocular and Cochlear Anomalies.Luigi Chiriatti, Manuela Priolo, Roberta Onesimo
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Frequent Collaborators
7 joint publications
Marco Tartaglia
6 joint publications
Marcello Niceta
5 joint publications
Alessandro Bruselles
4 joint publications
Lucia Ziccardi
3 joint publications
Emilia Stellacci
3 joint publications
Serena Cecchetti
3 joint publications
Carmen Dell'Aquila
3 joint publications
Francesca Clementina Radio
2 joint publications
Emilio Straface
2 joint publications
Manuela Priolo
