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Publications by Norma B. Romero

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

New England Journal of Medicine

English

Reducing Dynamin 2 Expression Rescues X-Linked Centronuclear Myopathy

Journal of Clinical Investigation

English

KBTBD13 Is an Actin-Binding Protein That Modulates Muscle Kinetics

Journal of Clinical Investigation

English

A New Case of SMA Phenotype Without Epilepsy Due to Biallelic Variants in ASAH1

European Journal of Human Genetics

English

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

Frontiers in Neurology

English

Mutations of the FHL1 Gene Cause Emery-Dreifuss Muscular Dystrophy

American Journal of Human Genetics

English