Fabiana F. Vercellino
Alessandria, 15121, Italy
Last Updated: 09/26/2026
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Found 10 publications
Landscape Analysis of COL6A1, COL6A2, and COL6A3 Pathogenic Variants in a Large Italian Cohort Presenting with Collagen VI-Related Myopathies: A Nationwide Report.
Journal: Biomolecules
Published: July 14, 2025
Novel De Novo RALA Missense Variants Expand the Genotype Spectrum of Hiatt-Neu-Cooper Neurodevelopmental Syndrome.
Journal: Molecular genetics & genomic medicine
Published: September 30, 2024
Electroclinical Features of Epilepsy in Kleefstra Syndrome.
Journal: Neuropediatrics
Published: October 06, 2023
Acquired Demyelinating Syndromes of the Central Nervous System in Children: The Importance of Regular Follow-up in the First Year After Onset.
Journal: Journal of child neurology
Published: August 14, 2023
Clinical and Neurophysiologic Phenotypes in Neonates With BRAT1 Encephalopathy.
Journal: Neurology
Published: June 25, 2022
The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.
Journal: Frontiers in genetics
Published: February 13, 2022
Symptomatic eating epilepsy: two novel pediatric patients and review of literature.
Journal: Italian journal of pediatrics
Published: January 19, 2021
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Journal: Italian journal of pediatrics
Published: April 28, 2020
Transient neonatal hyperinsulinemic hypoglycemia and neurological outcome: a case report.
Journal: Minerva pediatrica
Published: April 14, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026