Khaoula Khachnaoui-Zaafrane
Nice, France
Last Updated: 09/26/2026
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Found 9 publications
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.
Journal: Nature genetics
Published: September 02, 2025
The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort.
Journal: Clinical genetics
Published: April 25, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Journal: Nature genetics
Published: October 02, 2024
The expanding clinical and genetic spectrum of DYNC1H1-related disorders.
Journal: Brain : a journal of neurology
Published: December 29, 2023
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Journal: Nature communications
Published: October 09, 2023
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Journal: Orphanet journal of rare diseases
Published: August 31, 2021
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Journal: American journal of medical genetics. Part A
Published: February 23, 2021
Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND).
Journal: European journal of medical genetics
Published: June 04, 2020
Showing 1-9 of 9
Last Updated: 09/26/2026