Ludovico Graziani
7PUBLICATIONS
13CO-AUTHORS
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Publications (7)
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|Nov 27, 2025
Otofaciocervical Syndrome and Its Overlap with Branchiootorenal Spectrum: An Integrated Literature Analysis of EYA1-Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion.Ludovico Graziani, Miriam Lucia Carriero, Salvatore Melchionda
|Oct 15, 2025
Cytogenomics and optical genome mapping approaches characterize a derivative interstitial monosomy 18p due to a maternal complex intrachromosomal rearrangement.Ludovico Graziani, Silvia Genovese, Maria Luce Genovesi
|Jun 29, 2025
Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.Chiara Minotti, Sara Terreri, Andrea Del Fattore
|Nov 30, 2024
WDFY3 Haploinsufficiency Is Associated With Autosomal Dominant Neurodevelopmental Disorders and Macrocephaly.Ludovico Graziani, Miriam Lucia Carriero, Valentina Ferradini
|May 25, 2024
A Novel COL4A5 Pathogenic Variant Joins the Dots in a Family with a Synchronous Diagnosis of Alport Syndrome and Polycystic Kidney Disease.Ludovico Graziani, Chiara Minotti, Miriam Lucia Carriero
|Aug 26, 2023
Co-Inheritance of Pathogenic Variants in PKD1 and PKD2 Genes Determined by Parental Segregation and De Novo Origin: A Case Report.Ludovico Graziani, Stefania Zampatti, Miriam Lucia Carriero
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Frequent Collaborators
3 joint publications
Giuseppe Novelli
2 joint publications
Chiara Minotti
1 joint publications
Federica Sangiuolo
1 joint publications
Stefania Zampatti
1 joint publications
Miriam Lucia Carriero
1 joint publications
Silvia Lai
1 joint publications
Antonio Novelli
1 joint publications
Rosario Ruta
1 joint publications
Maria Lisa Dentici
1 joint publications
Maria Cristina Digilio
