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- 2022
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Mark
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease
(
- Contribution to journal › Article
- 2017
-
Mark
Hospitalizations for mitochondrial disease across the lifespan in the U.S
(
- Contribution to journal › Article
- 2016
-
Mark
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients.
2016) In Human Mutation(
- Contribution to journal › Article