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A Reghan Foley

Showing results (111-120 of 114) with videos related to

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The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> 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.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Pageof 12

Showing results (111-120 of 114) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 114 results.
The EMBO Journal|November 14, 2018
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegenerationVandana Shashi, Maria M Magiera, Dennis Klein, et al.
Medrxiv : the Preprint Server for Health Sciences|April 8, 2024
The recurrent deep intronic pseudoexon-inducing variant <i>COL6A1</i> 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.
Annals of Neurology|April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
Pageof 12