Delphine Deguine-Dupin
Toulouse, 31300, France
Last Updated: 09/26/2026
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Found 19 publications
COCH-Related Hearing Loss in a French Cohort: Novel Variants and Genotype-Phenotype Correlations.
Journal: Genes
Published: April 25, 2026
Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies.
Journal: International journal of cardiology
Published: June 25, 2024
2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Journal: Journal of clinical immunology
Published: June 25, 2024
Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies.
Journal: Orphanet journal of rare diseases
Published: June 10, 2024
Systematic analysis of SCN5A variants associated with inherited cardiac diseases.
Journal: Heart rhythm
Published: June 06, 2024
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review.
Journal: International journal of pediatric otorhinolaryngology
Published: December 02, 2022
Bilateral tympanic myxoma: A CARE case report.
Journal: European annals of otorhinolaryngology, head and neck diseases
Published: November 04, 2022
Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study.
Journal: Orphanet journal of rare diseases
Published: January 19, 2022
The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.
Journal: International journal of molecular sciences
Published: October 29, 2021
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Journal: Clinical genetics
Published: October 21, 2021
Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.
Journal: Journal of clinical medicine
Published: March 31, 2020
Last Updated: 09/26/2026