Stefano D'arrigo
Milan, Italy
Last Updated: 09/26/2026
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Found 86 publications
Social and subjective representations of visual impairment in Italy: a qualitative study.
Journal: BMJ paediatrics open
Published: October 30, 2025
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.
Journal: Journal of medical genetics
Published: June 09, 2025
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases.
Journal: Genetics in medicine open
Published: May 05, 2025
A Patient with a Small Deletion Affecting Only Exon 1-Intron 1 of the NXF5 Gene: Potential Evidence Supporting Its Role in Neurodevelopmental Disorders.
Journal: Genes
Published: April 18, 2025
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes.
Journal: Neurology. Genetics
Published: March 20, 2025
Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation.
Journal: Stem cell research
Published: March 14, 2025
Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.
Journal: Human genetics
Published: December 16, 2024
Phenotypic Spectrum and Natural History of Gillespie Syndrome. An Updated Literature Review with 2 New Cases.
Journal: Cerebellum (London, England)
Published: August 14, 2024
Intranasal dexmedetomidine sedation for EEG in children with autism spectrum disorder.
Journal: Frontiers in psychiatry
Published: July 10, 2024
Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region.
Journal: Stem cell research
Published: July 04, 2024
Last Updated: 09/26/2026