Rosario Ruta
Rome, 00165, Italy
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 9 publications
Identification of a Novel Nonsense Mutation in the IGSF1 Gene Reveals Sex-Specific Phenotypic Variability Within a Single Family.
Journal: Children (Basel, Switzerland)
Published: October 24, 2025
Differences of Sex Development: A Study of 420 Patients from a Single Tertiary Pediatric Endocrinology Center.
Journal: Children (Basel, Switzerland)
Published: June 01, 2025
Further Exploring the TRRAP Genotype-Phenotype Correlations: Report of Three New Patients With A Focus on Skeletal Anomalies.
Journal: Clinical genetics
Published: April 01, 2025
Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.
Journal: Molecular syndromology
Published: January 09, 2024
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Journal: The Journal of clinical endocrinology and metabolism
Published: November 08, 2023
A rare cause of transient neonatal diabetes mellitus: Spontaneous HNF1B splice variant.
Journal: Diabetic medicine : a journal of the British Diabetic Association
Published: July 22, 2023
A New Variant in the GATA6 Gene Associated with Tracheoesophageal Fistula, Pulmonary Vein Stenosis, and Neonatal Diabetes.
Journal: Hormone research in paediatrics
Published: July 13, 2023
Correction to: Monogenic diabetes clinic (MDC): 3‑year experience.
Journal: Acta diabetologica
Published: November 05, 2022
Monogenic diabetes clinic (MDC): 3-year experience.
Journal: Acta diabetologica
Published: May 30, 2022
Showing 1-9 of 9
Last Updated: 09/26/2026