Sandrine Marlin

14PUBLICATIONS
92CO-AUTHORS
Medical devicesMajor global burdens of diseaseFrench languageTranslation and interpretation studiesNeurogenetics
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Publications (14)

|Oct 04, 2026
Genotype-Phenotype Relationships in Patients Carrying Biallelic FDXR Pathogenic Variants-New Cases and Systematic Review.

|Aug 28, 2026
Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

|May 27, 2026
COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.

|Aug 28, 2025
Vestibular Deficit in Patients with Waardenburg Syndrome.

Mathilde Benifla, Margaux Serey-Gaut, Emilie Bois

|Jun 25, 2025
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.

Camille Engel, Michaela Rendek, Jessica Assoumani

|Jun 28, 2024
HDR syndrome: Large cohort and systematic review.

Nicolas Rive Le Gouard, Valentin Lafond-Rive, Laurence Jonard

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Frequent Collaborators

8 joint publications

Margaux Serey-Gaut

3 joint publications

Laurence Jonard

3 joint publications

Ralyath Balogoun

3 joint publications

Véronique Pingault