Stefania Bigoni

7PUBLICATIONS
39CO-AUTHORS
NanomanufacturingNeonatologyNeurogeneticsPacific Peoples biomedical and clinical scienceAdolescent health
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Publications (7)

|Sep 08, 2026
Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

|Jun 26, 2026
Chung-Jansen Syndrome in a Young Woman with a PHIP Variant: Severe Obesity, Intellectual Disability, and Endocrine Abnormalities.

|Mar 29, 2023
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population.

Beatrice Spedicati, Aurora Santin, Giuseppe Giovanni Nardone

|Apr 21, 2022
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.

Daphné Lehalle, Ange-Line Bruel, Antonio Vitobello

|Mar 05, 2022
Communicating the diagnosis of Klinefelter syndrome to children and adolescents: when, how, and who?

L Aliberti, I Gagliardi, S Bigoni

|Oct 19, 2021
Koolen-de Vries syndrome in a 63-year-old woman: Report of the oldest patient and a review of the adult phenotype.

Marianna Farnè, Laura Bernardini, Anna Capalbo

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Frequent Collaborators

2 joint publications

Alessandra Ferlini

2 joint publications

Maria Chiara Zatelli

2 joint publications

Maria Rosaria Ambrosio

2 joint publications

Rita Selvatici