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Frontiers in Genetics|December 29, 2023
Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French centerVictor Morel, Frédérique Audic, Charlotte Tardy, et al.
Brain : a Journal of Neurology|February 5, 2026
Benchmarking long-read sequencing approaches to resolve facioscapulohumeral dystrophy locus complexityCharlotte Tardy, Jean Philippe Trani, Victor Murcia Pienkowski, et al.
American Journal of Medical Genetics. Part A|April 14, 2026
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical EvaluationsMindy H Li, Deziree L Coleman, Kelsey Hogan, et al.
European Journal of Human Genetics : EJHG|December 26, 2024
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetranceLaurène Gérard, Mégane Delourme, Charlotte Tardy, et al.
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