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61 results on '"MDL onderzoek 1"'

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1. An unbiased approach of molecular characterization of the endometrium: toward defining endometrial-based infertility

2. Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study

3. The Effect of Genetic HLA Matching on Liver Transplantation Outcome: A Systematic Review and Meta-Analysis

4. The genome-wide mutational consequences of DNA hypomethylation

5. Prognostic factors for multi-organ dysfunction in pediatric oncology patients admitted to the pediatric intensive care unit

6. Validation of a modified bedside Pediatric Early Warning System score for detection of clinical deterioration in hospitalized pediatric oncology patients: A prospective cohort study

7. Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4

8. Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

9. Chemotherapy-induced intestinal injury promotes Galectin-9-driven modulation of T cell function

10. Challenges and opportunities targeting mechanisms of epithelial injury and recovery in acute intestinal graft-versus-host disease

11. Common anti-cancer therapies induce somatic mutations in stem cells of healthy tissue

12. Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia

13. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography

14. A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use

15. Evaluation of exclusive enteral nutrition and corticosteroid induction treatment in new-onset moderate-to-severe luminal paediatric Crohn’s disease

16. Recurrent exon-deleting activating mutations in AHR act as drivers of urinary tract cancer

17. Different responses to DNA damage determine ageing differences between organs

18. The predictive performance and impact of pediatric early warning systems in hospitalized pediatric oncology patients—A systematic review

19. GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

20. Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes

21. Mutation-specific reporter for optimization and enrichment of prime editing

22. Mogelijke toepassingen van organoïden in de geneeskunde

23. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

24. Erratum: DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells

25. Treatment of ARS deficiencies with specific amino acids

26. Metabolic fingerprint in hereditary spherocytosis correlates with red blood cell characteristics and clinical severity

27. Identifying the critically ill paediatric oncology patient: a study protocol for a prospective observational cohort study for validation of a modified Bedside Paediatric Early Warning System score in hospitalised paediatric oncology patients

28. Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

29. Co-Translational Folding of the First Transmembrane Domain of ABC-Transporter CFTR is Supported by Assembly with the First Cytosolic Domain

30. Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

31. Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

32. Prime editing for functional repair in patient-derived disease models

33. H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts

34. Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

35. Ethical challenges for pediatric liver organoid transplantation

36. Very Early Onset Inflammatory Bowel Disease: A Clinical Approach With a Focus on the Role of Genetics and Underlying Immune Deficiencies

37. Dissociation between hypertrophy and fibrosis in the left ventricle early after experimental kidney transplantation

38. DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells[S]

39. Transcriptional and epigenetic profiling of nutrient-deprived cells to identify novel regulators of autophagy

40. Non-coding DNA in IBD: From sequence variation in DNA regulatory elements to novel therapeutic potential

41. Regulatory DNA and Stem Cells in Complex Genetic Diseases

42. Platelet RNA modules point to coronary calcification in asymptomatic women with former preeclampsia

43. Transcriptome analysis reveals microvascular endothelial cell-dependent pericyte differentiation

44. The Atherosclerosis Risk Variant rs2107595 Mediates Allele-Specific Transcriptional Regulation of HDAC9 via E2F3 and Rb1

45. Indoxyl Sulfate Stimulates Angiogenesis by Regulating Reactive Oxygen Species Production via CYP1B1

46. Histone modifications underlie monocyte dysregulation in patients with systemic sclerosis, underlining the treatment potential of epigenetic targeting

47. Integrative Functional Annotation of 52 Genetic Loci Influencing Myocardial Mass Identifies Candidate Regulatory Variants and Target Genes

48. Transcriptomic and Epigenomic Profiling of Histone Deacetylase Inhibitor Treatment Reveals Distinct Gene Regulation Profiles Leading to Impaired Neutrophil Development

49. Cord-Blood-Stem-Cell-Derived Conventional Dendritic Cells Specifically Originate from CD115-Expressing Precursors

50. Characterization of endothelial and smooth muscle cells from different canine vessels

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