Lucas W. Gauthier
Lyon, France
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
Measurement of Red Blood Cell Sorbitol Dehydrogenase Activity for Fast Screening of SORD-Related Neuropathies.
Journal: Journal of the peripheral nervous system : JPNS
Published: January 15, 2026
Comparative Analysis of Long-Term Outcomes of Submacular Hemorrhage in AMD: A Real-Life Study.
Journal: Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
Published: March 12, 2025
ClinFly: an all-in-one method to translate, de-identify, and summarize medical reports in HPO format.
Journal: NAR genomics and bioinformatics
Published: December 18, 2024
B-cell immune deficiency in twin sisters expands the phenotype of MOPDI.
Journal: Clinical genetics
Published: February 26, 2024
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Journal: American journal of human genetics
Published: November 09, 2023
Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Journal: Bone
Published: September 15, 2023
CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 22, 2021
Description of a novel patient with the TRPM3 recurrent p.Val837Met variant.
Journal: European journal of medical genetics
Published: April 16, 2021
Showing 1-8 of 8
Last Updated: 09/26/2026