738 results on '"Somech, Raz"'
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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. Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
5. Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort
6. CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications
7. Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
8. Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?
9. SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma
10. Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses
11. The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
12. The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
13. The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning
14. Helper T cell immunity in humans with inherited CD4 deficiency
15. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
16. Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience
17. B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia
18. Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel
19. Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
20. Kidney and urinary tract findings among patients with Kabuki (make-up) syndrome
21. New Instrument for the Evaluation of Prodromes and Attacks of Hereditary Angioedema (HAE-EPA)
22. Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature
23. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders
24. Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content
25. Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content
26. Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy
27. Characterization of T and B cell repertoire diversity in patients with RAG deficiency
28. Rac2 Deficiency
29. A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia
30. Immune and TRG repertoire signature of the thymus in Down syndrome patients
31. Whole exome sequencing (WES) approach for diagnosing primary immunodeficiencies (PIDs) in a highly consanguineous community
32. Biallelic hypomorphic variants in CAD cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2
33. Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3
34. An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency
35. A Large Cohort of RAG1/2-Deficient SCID Patients—Clinical, Immunological, and Prognostic Analysis
36. Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease)
37. Proteome Analysis of Human Neutrophil Granulocytes From Patients With Monogenic Disease Using Data-independent Acquisition
38. Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency
39. T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency
40. Biallelic hypomorphic variants in CAD cause uridine‐responsive macrocytic anaemia with elevated haemoglobin‐A2.
41. Newborn screening for severe combined immunodeficiency and inborn errors of immunity
42. Localized Juvenile Periodontitis
43. B-Actin Deficiency
44. Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia
45. Immune reconstitution after HSCT in SCID—a cohort of conditioned and unconditioned patients
46. Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire
47. Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
48. Immune and TRG repertoire signature of the thymus in Down syndrome patients
49. Author Correction: Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells
50. List of Contributors
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