Alessandra Fabbiani
Siena, Italy
Last Updated: 09/26/2026
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Found 18 publications
Corrigendum: Spondyloocular syndrome: A novel XYLT2 variant with description of the neonatal phenotype.
Journal: Frontiers in genetics
Published: January 13, 2023
VEXAS syndrome: a new paradigm for adult-onset monogenic autoinflammatory diseases.
Journal: Internal and emergency medicine
Published: October 11, 2022
The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases.
Journal: Frontiers in medicine
Published: June 28, 2022
Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome.
Journal: Frontiers in medicine
Published: April 22, 2022
Development and Implementation of the AIDA International Registry for Patients With Still's Disease.
Development and Implementation of the AIDA International Registry for Patients With Still's Disease.
Journal: Frontiers in medicine
Published: February 18, 2022
SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures.
Journal: Frontiers in molecular neuroscience
Published: February 16, 2022
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD.
Journal: Brain : a journal of neurology
Published: February 14, 2022
New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing.
Journal: International journal of molecular sciences
Published: November 29, 2021
Spondyloocular Syndrome: A Novel XYLT2 Variant with Description of the Neonatal Phenotype.
Journal: Frontiers in genetics
Published: August 19, 2021
Last Updated: 09/26/2026