61 results on '"MDL onderzoek 1"'
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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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