Julie Soblet
Brussels, BRU, Belgium
Last Updated: 09/26/2026
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Found 30 publications
Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Journal: European journal of human genetics : EJHG
Published: April 02, 2026
Oligogenic inheritance in epilepsy: A systematic exome-wide analysis.
Journal: Epilepsia
Published: March 01, 2026
Diagnostic yield of clinical exome sequencing in 868 children with neurodevelopmental disorders.
Journal: European journal of medical genetics
Published: February 06, 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
A milder form of NSRP1-associated neurodevelopmental disorder, caused by a missense variant in the nuclear localization signal.
Journal: American journal of medical genetics. Part A
Published: March 04, 2024
Molecular basis of ClC-6 function and its impairment in human disease.
Journal: Science advances
Published: October 13, 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Journal: Human genomics
Published: January 10, 2023
An exome-wide study of renal operational tolerance.
Journal: Frontiers in medicine
Published: June 23, 2022
Two siblings with Bosch-Boonstra-Schaaf optic atrophy syndrome due to parental gonadal mosaicism.
Journal: European journal of medical genetics
Published: April 12, 2022
Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy.
Journal: Annals of clinical and translational neurology
Published: March 18, 2022
A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene.
Journal: Clinical case reports
Published: April 14, 2021
Last Updated: 09/26/2026