Lorenzo Sinibaldi
12PUBLICATIONS
55CO-AUTHORS
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Publications (12)
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|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
|Jul 13, 2024
A Case of CDKL5 Deficiency Due to an X Chromosome Pericentric Inversion: Delineation of Structural Rearrangements as an Overlooked Recurrent Pathological Mechanism.Antonietta Lombardo, Lorenzo Sinibaldi, Silvia Genovese
|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
|Apr 27, 2024
Spectrum of <i>ERCC6</i>-Related Cockayne Syndrome (Type B): From Mild to Severe Forms.Jacopo Sartorelli, Lorena Travaglini, Marina Macchiaiolo
|Mar 27, 2024
Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome.Giulio Calcagni, Federica Ferrigno, Alessio Franceschini
|Oct 28, 2023
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.Roberta Onesimo, Elisabetta Sforza, Valentina Trevisan
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Frequent Collaborators
5 joint publications
Antonio Novelli
4 joint publications
Maria Lisa Dentici
3 joint publications
Marco Tartaglia
2 joint publications
Chiara Leoni
2 joint publications
Viola Alesi
2 joint publications
Maria Cristina Digilio
2 joint publications
Marcello Niceta
1 joint publications
Laura Bernardini
1 joint publications
Paolo Alfieri
1 joint publications
Francesco Brancati
