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Authors
- AlDhaheri, Noura S
- Antonellis, Anthony
- Bernes, Saunder
- Bharucha-Goebel, Diana
- Bi, Weimin
- Bonnemann, Carsten
- Crosby, Kathleen
- Elsea, Sarah H
- Ghosh, Rajarshi
- Graham, Brett H
- Hanchard, Neil A
- Hong, William
- Kuo, Molly E
- Lim, Jaehyung
- Lotze, Timothy
- Manberg, Stephanie
- Markovitz, Rebecca
- Mizerik, Elizabeth
- Mohila, Carrie A
- Nayak, Anuranjita
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Topics
- Alleles
- Charcot-Marie-Tooth Disease
- Child
- Child, Preschool
- Electron Transport
- Electron Transport Complex IV
- Female
- Genetic Predisposition to Disease
- Glycine-tRNA Ligase
- Humans
- Infant
- Infant, Newborn
- Intellectual Disability
- Leigh Disease
- Male
- Muscular Atrophy, Spinal
- Mutation
- Phenotype
- diagnostic imaging
- genetics
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