Caterina L. Rizzo
Siena, Italy
Last Updated: 09/26/2026
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Found 10 publications
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Journal: European journal of human genetics : EJHG
Published: April 02, 2026
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Biallelic variants in RNU2-2 cause a remarkably frequent developmental and epileptic encephalopathy.
Journal: Nature genetics
Published: September 02, 2025
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.
Journal: Computational and structural biotechnology journal
Published: August 28, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Journal: European journal of human genetics : EJHG
Published: June 23, 2024
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Journal: European journal of human genetics : EJHG
Published: June 23, 2024
Natural history of KBG syndrome in a large European cohort.
Journal: Human molecular genetics
Published: June 01, 2022
Expanding the clinical spectrum associated with the PACS1 p.Arg203Trp mutational hot-spot: Two additional Italian patients.
Journal: American journal of medical genetics. Part A
Published: January 31, 2022
Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.
Journal: Journal of the neurological sciences
Published: May 25, 2015
First identification of a triple corneal dystrophy association: keratoconus, epithelial basement membrane corneal dystrophy and fuchs' endothelial corneal dystrophy.
Journal: Case reports in ophthalmology
Published: November 20, 2014
Showing 1-10 of 10
Last Updated: 09/26/2026