566 results on '"Uhlig, Holm H."'
Search Results
2. Cellular and molecular basis of proximal small intestine disorders
3. Short-chain fatty acids: linking diet, the microbiome and immunity
4. Identification and validation of a blood- based diagnostic lipidomic signature of pediatric inflammatory bowel disease
5. An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity
6. Precision medicine in monogenic inflammatory bowel disease: proposed mIBD REPORT standards
7. The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants
8. The impact of inversions across 33,924 families with rare disease from a national genome sequencing project
9. Biallelic PI4KA variants cause neurological, intestinal and immunological disease
10. Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia
11. Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice
12. Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
13. HLA-DP on Epithelial Cells Enables Tissue Damage by NKp44+ Natural Killer Cells in Ulcerative Colitis
14. Pathogenic Interleukin-10 Receptor Alpha Variants in Humans — Balancing Natural Selection and Clinical Implications
15. Incidence, Management, and Outcomes of Very Early Onset Inflammatory Bowel Diseases and Infantile-Onset Disease: An Epi-IIRN Study
16. Defining Interactions Between the Genome, Epigenome, and the Environment in Inflammatory Bowel Disease: Progress and Prospects
17. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
18. Genomic diagnosis and care co-ordination for monogenic inflammatory bowel disease in children and adults: consensus guideline on behalf of the British Society of Gastroenterology and British Society of Paediatric Gastroenterology, Hepatology and Nutrition
19. Large-scale sequencing identifies multiple genes and rare variants associated with Crohn’s disease susceptibility
20. Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism
21. Cessation of exclusive breastfeeding and seasonality, but not small intestinal bacterial overgrowth, are associated with environmental enteric dysfunction: A birth cohort study amongst infants in rural Kenya
22. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease
23. Author Correction: Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
24. Valosin-containing protein-regulated endoplasmic reticulum stress causes NOD2-dependent inflammatory responses
25. A conserved population of MHC II-restricted, innate-like, commensal-reactive T cells in the gut of humans and mice
26. Genomic Testing Identifies Monogenic Causes in Patients with Very Early-Onset Inflammatory Bowel Disease: A Multi-center Survey in an Iranian Cohort
27. Intestinal inflammation and extraintestinal disease: understanding dynamic risk
28. IL-1-driven stromal–neutrophil interactions define a subset of patients with inflammatory bowel disease that does not respond to therapies
29. BCG Vaccine–Associated Complications in Patients with PTEN Hamartoma Tumor Syndrome
30. Cells of the human intestinal tract mapped across space and time
31. Human AGR2 Deficiency Causes Mucus Barrier Dysfunction and Infantile Inflammatory Bowel Disease
32. Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
33. Catalyzing change: Implementing standardised reporting in monogenic inflammatory bowel disease research
34. A metabolic perspective of the neutrophil life cycle: new avenues in immunometabolism
35. The Human GP130 Cytokine Receptor and Its Expression—an Atlas and Functional Taxonomy of Genetic Variants
36. Interleukin-22 promotes phagolysosomal fusion to induce protection against Salmonella enterica Typhimurium in human epithelial cells
37. Congenital abnormalities of the gastrointestinal tract
38. UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking
39. Antibody Concentrations Decrease 14-Fold in Children With Celiac Disease on a Gluten-Free Diet but Remain High at 3 Months
40. Clinical Genomics for the Diagnosis of Monogenic forms of Inflammatory Bowel Disease: A Position Paper from The Paediatric IBD Porto Group of ESPGHAN
41. Predictive Prenatal Diagnosis for Infantile-Onset Inflammatory Bowel Disease due to Interleukin-10 Signalling Defects
42. Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice
43. Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells
44. Intestinal bacterial flora and the inflammatory immune response in the T cell transfer model of colitis
45. Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease
46. Discovery of CD80 and CD86 as recent activation markers on regulatory T cells by protein-RNA single-cell analysis
47. Immune predictors of oral poliovirus vaccine immunogenicity among infants in South India
48. A variant in IL6ST with a selective IL-11 signaling defect in human and mouse
49. Corona Virus Disease 2019 and Paediatric Inflammatory Bowel Diseases: Global Experience and Provisional Guidance (March 2020) from the Paediatric IBD Porto Group of European Society of Paediatric Gastroenterology, Hepatology, and Nutrition
50. Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy
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