Mafalda Mucciolo

4PUBLICATIONS
19CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)Genetic immunologyInfant and child healthNeonatology
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Publications (4)

|Dec 30, 2025
Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family.

Rosario Ruta, Nicoletta Massaccesi, Mafalda Mucciolo

|Jul 29, 2025
Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.

Silvia Ventresca, Laura Chioma, Rosario Ruta

|Aug 26, 2020
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin

Carla Bizzarri, Germana Antonella Giannone, Jacopo Gervasoni

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