Mafalda Mucciolo
Rome, 00165, Italy
Last Updated: 09/26/2026
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Found 32 publications
Multisystemic Assessment in Andersen-Tawil Syndrome: Report of Eighteen Individuals.
Journal: Diagnostics (Basel, Switzerland)
Published: April 27, 2026
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
Composite Digenic Diabetes Linked to Heterozygous Variants of GCK and NEUROD1: A Case Report.
Journal: Hormone research in paediatrics
Published: August 09, 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
DKA in a toddler negative to type 1 diabetes autoantibodies: unusual presentation of Kearn-Sayre syndrome.
Journal: Acta diabetologica
Published: January 26, 2025
Case Report - Severe hypospadias in 46, XY karyotype patients: is third level genetic testing always mandatory?
Journal: Frontiers in surgery
Published: November 08, 2024
Exploring the Clinical Spectrum of HUWE1 -Related Neurodevelopmental Disorder: Five New Patients and Literature Review.
Journal: American journal of medical genetics. Part A
Published: September 20, 2024
Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Journal: European journal of human genetics : EJHG
Published: January 26, 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
Last Updated: 09/26/2026