Roberta Zeuli
Naples, Italy
Last Updated: 09/26/2026
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Found 13 publications
CLUAP1 variants cause non-syndromic retinitis pigmentosa.
Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Published: February 01, 2026
Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.
Journal: American journal of medical genetics. Part A
Published: October 14, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
A Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Journal: Molecular genetics & genomic medicine
Published: August 29, 2024
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Journal: European journal of human genetics : EJHG
Published: May 02, 2024
Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants.
Journal: American journal of medical genetics. Part A
Published: December 29, 2023
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A.
Journal: Journal of neurology
Published: May 09, 2023
Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Journal: Orphanet journal of rare diseases
Published: September 15, 2022
Last Updated: 09/26/2026