13 results on '"Alston, Charlotte L"'
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2. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines
3. Clinical implementation of RNA sequencing for Mendelian disease diagnostics
4. Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging
5. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
6. Using a quantitative quadruple immunofluorescent assay to diagnose isolated mitochondrial Complex I deficiency
7. Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits
8. Decreased male reproductive success in association with mitochondrial dysfunction
9. A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency
10. A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency
11. A national perspective on prenatal testing for mitochondrial disease
12. Maternally inherited mitochondrial DNA disease in consanguineous families
13. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
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