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Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapyA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Brain : a Journal of Neurology|April 3, 2025
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>TA Reghan Foley, Véronique Bolduc, Fady Guirguis, et al.Brain : a Journal of Neurology|February 12, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORDAndrea Cortese, Maike F Dohrn, Riccardo Curro, et al.European Heart Journal|March 6, 2026
Laminopathies: natural history and risk prediction of heart failurePhilippe Charron, Julie Proukhnitzky, Rabah Ben Yaou, et al.Circulation|June 4, 2019
Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in LaminopathiesKarim Wahbi, Rabah Ben Yaou, Estelle Gandjbakhch, et al.Pageof 25