48 results on '"Somech, Raz"'
Search Results
2. Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors
3. Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
4. CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications
5. Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
6. Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?
7. SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma
8. Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses
9. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
10. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
11. Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience
12. B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia
13. Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome
14. New Instrument for the Evaluation of Prodromes and Attacks of Hereditary Angioedema (HAE-EPA)
15. Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy
16. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
17. A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia
18. Immune and TRG repertoire signature of the thymus in Down syndrome patients
19. Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3
20. An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
21. A Large Cohort of RAG1/2-Deficient SCID Patients—Clinical, Immunological, and Prognostic Analysis
22. Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)
23. Immune reconstitution after HSCT in SCID—a cohort of conditioned and unconditioned patients
24. Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire
25. Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
26. Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
27. MHC II deficient infant identified by newborn screening program for SCID
28. Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma
29. Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency
30. T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
31. Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome
32. Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)
33. Correction: Pediatric literature trends: high-level analysis using text-mining
34. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
35. The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation
36. Survival of the fetus: fetal B and T cell receptor repertoire development
37. Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia
38. A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)
39. Combined immunodeficiency in a patient with mosaic monosomy 21
40. Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1
41. Insight into normal thymic activity by assessment of peripheral blood samples
42. Hypoparathyroidism and central diabetes insipidus: in search of the link
43. Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia
44. Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient
45. Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma
46. Purine nucleoside phosphorylase deficiency presenting as severe combined immune deficiency
47. T-Cell Compartment in Synovial Fluid of Pediatric Patients with JIA Correlates with Disease Phenotype
48. Enhanced expression of the nuclear envelope LAP2 transcriptional repressors in normal and malignant activated lymphocytes
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.