47 results on '"Kleinle, Stephanie"'
Search Results
2. Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?
3. HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death
4. Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study
5. Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort
6. Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration
7. Revisiting mitochondrial diagnostic criteria in the new era of genomics
8. Novel SYN1 variant in two brothers with focal epilepsy and their prompt response to valproate
9. Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing
10. Quality assurance within the context of genome diagnostics (a german perspective).
11. Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
12. Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells
13. Mitochondrial dysfunction in liver failure requiring transplantation
14. Detection of the Mitochondrial DNA Mutation MELAS3243 Using Hybridization Probes
15. Genetic heterogeneity of motor neuropathies
16. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
17. Sensory neuropathy due to RFC1 in a patient with ALS: more than a coincidence?
18. Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report
19. Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
20. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
21. Dealing With Unspecific Clinical Phenotypes in Molecular Autopsy - HPO-Driven Whole Exome Sequencing Analysis Versus Gene Panel Testing
22. Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
23. Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure
24. Hyperventilation due to mitochondrial myopathy
25. Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome
26. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
27. A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNASer(UCN) mutations in a subgroup with syndromal encephalopathy
28. Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method
29. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
30. Respiratory chain deficiency in nonmitochondrial disease
31. Novel genetic and neuropathological insights in neurogenic muscle weakness, ataxia, and retinitis pigmentosa (NARP)
32. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
33. ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment
34. Unexplained infertility: increased risk for 21-hydroxylase-deficiency in parents and offspring?
35. Maternal variants in NLRPand other maternal effect proteins are associated with multilocus imprinting disturbance in offspring
36. Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR
37. Problems in detecting mosaic DNA methylation in Angelman syndrome
38. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) gene
39. Combined 3-Methylglutaconic and 3-Hydroxy- 3-Methylglutaric Aciduria with Endocardial Fibroelastosis and Dilatative Cardiomyopathy in Male and Female Siblings with Partial Deficiency of Complex ll/lll in Fibroblasts
40. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) gene.
41. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
42. Genetic heterogeneity of motor neuropathies
43. Whole exome sequencing and the clinician: we need clinical skills and functional validation in variant filtering
44. A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies
45. Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells
46. Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.
47. Unexplained infertility: increased risk for 21-hydroxylase-deficiency in parents and offspring?
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