40 results on '"Marwaha, Ashish"'
Search Results
2. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
3. Autoinflammatory Diseases: A Review.
4. 68 LRBA dysfunction: a new diagnostic entity caused by biallelic LRBA missense variants results in reduced CTLA-4 expression and autoimmunity
5. 106 Outcomes Following Hematopoietic Cell Transplant for CD3δ Severe Combined Immune Deficiency: a PIDTC Natural History Study
6. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
7. Association between cystic fibrosis transmembrane regulator genotype and clinical outcomes, glucose homeostasis indices and CF-related diabetes risk in adults with CF
8. Progressive decline of T and B cell numbers and function in a patient with CDC42 deficiency
9. The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.
10. P429: Epidemiological assessment of autosomal recessive founder mutations in the Canadian Mennonite population
11. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
12. CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
13. Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome
14. Targeting the IL-17/IFN-γ axis as a potential new clinical therapy for type 1 diabetes
15. A Chromosomal Duplication Encompassing Interleukin-33 Causes a Novel Hyper IgE Phenotype Characterized by Eosinophilic Esophagitis and Generalized Autoimmunity
16. HELLP or Help: A Real Challenge
17. Expansion of the neurodevelopmental phenotypic spectrum ofCKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect
18. The utility of DNA methylation signatures in directing genome sequencing workflow: Kabuki syndrome and CDK13‐related disorder
19. A phase 1b open-label dose-finding study of ustekinumab in young adults with type 1 diabetes
20. Phase II multicentre, double-blind, randomised trial of ustekinumab in adolescents with new-onset type 1 diabetes (USTEK1D): trial protocol
21. The point-of-care use of a facial phenotyping tool in the genetics clinic: enhancing diagnosis and education with machine learning
22. Biallelic loss-of-function variants in RABGAP1cause a novel neurodevelopmental syndrome
23. Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome
24. Epidermal growth factor receptor deficiency: Expanding the phenotype beyond infancy
25. Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation
26. Combined immunodeficiency associated with homozygous MALT1 mutations
27. Human ITGAV variants are associated with immune dysregulation, brain abnormalities, and colitis
28. Treg gene signatures predict and measure type 1 diabetes trajectory
29. The point-of-care use of a facial phenotyping tool in the genetics clinic: Enhancing diagnosis and education with machine learning.
30. Two cases of carbonic anhydrase VA deficiency—An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcome.
31. Profiling of circulating microRNAs in children with recent onset of type 1 diabetes
32. Genetic variants in the IL-2 pathway disrupt the immune balance between regulatory T cells and Th17 cells in human type 1 diabetes
33. Expansion of the neurodevelopmental phenotypic spectrum of CKAP2L‐related Filippi syndrome to include an adolescent male with normal intellect.
34. HELLP or Help: A Real Challenge
35. CCL3 and CCL4 secretion by T regulatory cells attracts CD4+ and CD8+ T cells (P1077)
36. Tregs from T1D subjects with a susceptible IL-2R gene SNP, respond aberrantly to IL-2 stimulation. (P4080)
37. TH17 Cells in Autoimmunity and Immunodeficiency: Protective or Pathogenic?
38. Cutting Edge: Increased IL-17–Secreting T Cells in Children with New-Onset Type 1 Diabetes
39. Increased Fraction of IL-17 Secreting Cells in Type 1 Diabetes
40. eP155 - The point-of-care use of a facial phenotyping tool in the genetics clinic: enhancing diagnosis and education with machine learning.
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