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- 2022
-
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
- 2021
-
Mark
Predictors of outcome in children with disorders of mitochondrial metabolism in the pediatric intensive care unit
(
- Contribution to journal › Article
- 2017
-
Mark
Hospitalizations for mitochondrial disease across the lifespan in the U.S
(
- Contribution to journal › Article
- 2012
-
Mark
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database
(
- Contribution to journal › Article