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1. Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach

2. Digenic Inheritance in Rare Disorders and Mitochondrial Disease—Crossing the Frontier to a More Comprehensive Understanding of Etiology

3. Network reconstruction for trans acting genetic loci using multi-omics data and prior information

4. Investigating the role of ASCC1 in the causation of bone fragility

5. New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center

6. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

7. RNA sequencing role and application in clinical diagnostic

8. Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus

9. Meta-analyses identify DNA methylation associated with kidney function and damage

10. Characterising a homozygous two‐exon deletion in UQCRH: comparing human and mouse phenotypes

11. Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber’s Hereditary Optic Neuropathy (LHON) Subjects

12. Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

13. Detection of aberrant splicing events in RNA-seq data using FRASER

14. PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes

15. A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

17. TREML2 Gene Expression and Its Missense Variant rs3747742 Associate with White Matter Hyperintensity Volume and Alzheimer’s Disease-Related Brain Atrophy in the General Population

18. Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency

19. Biallelic COA7-Variants Leading to Developmental Regression With Progressive Spasticity and Brain Atrophy in a Chinese Patient

20. How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

21. Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

22. Quantification and discovery of sequence determinants of protein‐per‐mRNA amount in 29 human tissues

23. Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

24. Analysis of repeated leukocyte DNA methylation assessments reveals persistent epigenetic alterations after an incident myocardial infarction

25. Identification of a Novel Variant in MT-CO3 Causing MELAS

26. Case Report: Rapid Treatment of Uridine-Responsive Epileptic Encephalopathy Caused by CAD Deficiency

27. Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

28. The Dimensions of Primary Mitochondrial Disorders

30. Mitochondrial Regulation of the 26S Proteasome

31. Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

32. Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

34. ncRNAs: New Players in Mitochondrial Health and Disease?

35. Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity

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

37. Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

38. Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

39. Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS

41. Genetic diagnosis of Mendelian disorders via RNA sequencing

42. X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in RPGR

43. CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

44. Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

45. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

46. OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.

47. Mitochondrial replacement approaches: challenges for clinical implementation

48. Association between DNA Methylation in Whole Blood and Measures of Glucose Metabolism: KORA F4 Study.

49. Epigenetic Signatures at AQP3 and SOCS3 Engage in Low-Grade Inflammation across Different Tissues.

50. The Human Blood Metabolome-Transcriptome Interface.

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