Silvana Briuglia

13PUBLICATIONS
46CO-AUTHORS
Predictive and prognostic markersDevelopmental genetics (incl. sex determination)Gene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)Behavioural epidemiology
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Publications (13)

|Jul 28, 2026
Hereditary Pancreatic Cancer: Genetic Risk, Surveillance Strategies, and Therapeutic Implications.

|May 15, 2026
Genetic Characterization and Multidisciplinary Management of Complete Androgen Insensitivity Syndrome: Unveiling a Novel AR Mutation.

|Dec 30, 2025
Genetic Insight into Expression-Defined Melanoma Subtypes and Network Mechanisms: An in Silico Study.

Desirèe Speranza, Mariapia Marafioti, Martina Musarra

|Oct 29, 2025
Linking Genotype to Clinical Features in SMC1A-Related Phenotypes: From Cornelia de Lange Syndrome to Developmental and Epileptic Encephalopathy, a Comprehensive Review.

Maria Francesca Astorino, Desirèe Speranza, Giovanni Luppino

|Aug 28, 2025
Two Years of Growth Hormone Therapy in a Child with Severe Short Stature Due to Overlap Syndrome with a Novel SETD5 Gene Mutation: Case Report and Review of the Literature.

Giovanni Luppino, Malgorzata Wasniewska, Giorgia Pepe

|Feb 25, 2023
Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.

Anna Paola Capra, Maria Angela La Rosa, Sara Briguori

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Frequent Collaborators

6 joint publications

Anna Paola Capra

3 joint publications

Desirèe Speranza

3 joint publications

Alessio Ardizzone

3 joint publications

Emanuela Esposito