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22 results on '"Koenig, Mary K."'

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1. DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

3. De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

4. BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

5. Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy

6. RARS1‐related hypomyelinating leukodystrophy: Expanding the spectrum

7. Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

8. Reanalysis of Clinical Exome Sequencing Data

9. Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience

13. Solid organ transplantation in primary mitochondrial disease: Proceed with caution

21. Low-voltage electro-optic polymer modulators

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