Edvige Veneselli
Genoa, Italy
Last Updated: 09/26/2026
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Found 33 publications
The Italian Angelman Syndrome Registry (IReAS): a tool for standardized data collection and genotype-phenotype analysis.
Journal: European journal of medical genetics
Published: September 08, 2025
Practical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: March 02, 2025
Management of respiratory issues in patients with Rett syndrome: Italian experts' consensus using a Delphi approach.
Journal: Pediatric pulmonology
Published: December 03, 2023
Care Issues in Patients with Rett Syndrome: A Parental Perspective.
Journal: Children (Basel, Switzerland)
Published: September 22, 2023
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Journal: Neurology
Published: December 23, 2019
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes.
Journal: International journal of molecular sciences
Published: June 27, 2019
Molecular Genetics and Interferon Signature in the Italian Aicardi Goutières Syndrome Cohort: Report of 12 New Cases and Literature Review.
Journal: Journal of clinical medicine
Published: March 28, 2019
PANDAS and PANS: Clinical, Neuropsychological, and Biological Characterization of a Monocentric Series of Patients and Proposal for a Diagnostic Protocol.
Journal: Journal of child and adolescent psychopharmacology
Published: February 07, 2019
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.
Journal: European journal of medical genetics
Published: June 28, 2018
Analysis of the Phenotypes in the Rett Networked Database.
Journal: International journal of genomics
Published: May 03, 2018
Prospective motor control obeys to idiosyncratic strategies in autism.
Journal: Scientific reports
Published: March 26, 2018
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus.
Journal: Developmental neuropsychology
Published: February 17, 2018
Last Updated: 09/26/2026