Nicola Perrotti

8PUBLICATIONS
25CO-AUTHORS
Medical biochemistry - lipidsCancer geneticsDevelopmental genetics (incl. sex determination)Immunogenetics (incl. genetic immunology)Molecular targets
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Publications (8)

|Jun 26, 2026
Expanding the Mutational Spectrum of <i>ACADVL</i>: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

|Jul 29, 2025
Cascade Genetic Testing for Hereditary Cancer Predisposition: Characterization of Patients in a Catchment Area of Southern Italy.

Anna Bilotta, Elisa Lo Feudo, Valentina Rocca

|Nov 26, 2024
Germline Variant Spectrum in Southern Italian High-Risk Hereditary Breast Cancer Patients: Insights from Multi-Gene Panel Testing.

Valentina Rocca, Elisa Lo Feudo, Francesca Dinatolo

|Jan 23, 2024
Non-Invasive Prenatal Test Analysis Opens a Pandora's Box: Identification of Very Rare Cases of SRY-Positive Healthy Females, Segregating for Three Generations Thanks to Preferential Inactivation of the XqYp Translocated Chromosome.

Cristina Politi, Katia Grillone, Donatella Nocera

|Oct 11, 2023
Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).

Simona De Angelis, Emanuela Medda, Daniela Rotondi

|Mar 29, 2023
Kinase Inhibitors in Genetic Diseases.

Lucia D'Antona, Rosario Amato, Carolina Brescia

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Frequent Collaborators

5 joint publications

Rodolfo Iuliano

3 joint publications

Lucia D'Antona

3 joint publications

Valentina Rocca

2 joint publications

Elisa Lo Feudo