Aurelie Gouronc

Strasbourg, France

Last Updated: 09/26/2026

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Found 11 publications

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Delineation of a Novel Mirror Syndrome: NFIC Variants Cause Syndromic Intellectual Disability With Macrocephaly.

Journal: Clinical genetics

Published: May 21, 2026

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Diagnosis complexity of dentinogenesis imperfecta involving DSPP genetic variants.

Journal: Journal of medical genetics

Published: November 04, 2025

IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.

IMPROVE 2023: The 2nd International Meeting on Pathway-Related Obesity: Vision & Evidence.

Journal: Clinical obesity

Published: April 16, 2025

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

ACTB deletions or single-nucleotide loss-of-function variants: expansion and further delineation of the phenotype and review of the literature.

Journal: Journal of medical genetics

Published: January 23, 2025

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Copy Number Variation and Epilepsy: State of the Art in the Era of High-Throughput Sequencing-A Multicenter Cohort Study.

Journal: Pediatric neurology

Published: January 04, 2024

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.

Journal: European journal of human genetics : EJHG

Published: December 13, 2023

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.

Journal: Molecular genetics & genomic medicine

Published: August 03, 2023

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy.

Journal: Human mutation

Published: January 08, 2023

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Clinical and genomic delineation of the new proximal 19p13.3 microduplication syndrome.

Journal: American journal of medical genetics. Part A

Published: May 16, 2022

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation.

Journal: Frontiers in genetics

Published: April 28, 2020

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.

High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3.

Journal: Clinical genetics

Published: March 11, 2020

Showing 1-11 of 11

Last Updated: 09/26/2026