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473 results on '"Holger Prokisch"'

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

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

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

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

5. Clinical implementation of RNA sequencing for Mendelian disease diagnostics

6. RNA sequencing role and application in clinical diagnostic

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

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

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

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

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

12. PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes

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

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

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

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

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

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

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

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

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

23. The Dimensions of Primary Mitochondrial Disorders

25. Mitochondrial Regulation of the 26S Proteasome

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

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

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

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

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

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

34. Genetic diagnosis of Mendelian disorders via RNA sequencing

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

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

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

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

39. Mitochondrial replacement approaches: challenges for clinical implementation

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

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

42. Novel biomarkers for pre‐diabetes identified by metabolomics

43. The Human Blood Metabolome-Transcriptome Interface.

44. Cell Specific eQTL Analysis without Sorting Cells.

45. A meta-analysis of gene expression signatures of blood pressure and hypertension.

46. Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels.

47. Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.

48. MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy.

49. Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome.

50. Mapping the genetic architecture of gene regulation in whole blood.

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