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8. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

9. Improving the genetic diagnosis of mitochondrial disease using custom next-generation sequencing strategies

14. Mutant PTPMT1 disrupts cardiolipin metabolism and mitochondrial bioenergetics leading to a neurodevelopmental syndrome

17. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

18. Russian liberalism and British journalism : the life and work of Harold Williams (1876-1928)

25. Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

26. Defining the nuclear genetic architecture of a common maternally inherited mitochondrial disorder

28. Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms

31. Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

32. Defining cardiac adaptations and safety of endurance training in patients with m.3243A>G-related mitochondrial disease

33. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

38. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

39. Additional file 2 of Clinical implementation of RNA sequencing for Mendelian disease diagnostics

41. PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

43. Natural History of Leigh Syndrome: A Study of Disease Burden and Progression

45. LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

48. Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to Novel RARS2 Mutations

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