Chiara Leoni

55PUBLICATIONS
174CO-AUTHORS
Rheumatology and arthritisGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesMedical molecular engineering of nucleic acids and proteinsEpigenetics (incl. genome methylation and epigenomics)
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Publications (55)

|Apr 23, 2026
Muscle ultrasonography in costello syndrome: unveiling new clinical insights of a complex muscular phenotype.

|Jan 28, 2026
UBTF Haploinsufficiency-Related Disorder: Report of a New Case Series and Definition of the Facial Gestalt.

Luigi Chiriatti, Manuela Priolo, Chiara Leoni

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

Andrea Gazzin, Marta Calvo, Federico Rondot

|Dec 11, 2025
Urinary Multi-Omics Profiling Reveals Systemic Molecular Alterations in Progressive External Ophthalmoplegia.

Michela Cicchinelli, Guido Primiano, Francesca Canu

|Nov 21, 2025
9q34.11 Microduplications Encompassing SET Gene Are Associated With Neurodevelopmental Disorder and Recurrent Dysmorphisms.

Alessandro De Falco, Marie Vincent, Gaëlle Vieville

|Oct 07, 2025
Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype.

Iacopo Bellani, Valentina Trevisan, Germana Viscogliosi

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Frequent Collaborators

26 joint publications

Roberta Onesimo

16 joint publications

Marco Tartaglia

16 joint publications

Giuseppe Zampino

9 joint publications

Elisabetta Sforza