803 results on '"Van der Burg, Mirjam"'
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2. Recommendations for uniform definitions used in newborn screening for severe combined immunodeficiency
3. Causative mechanisms and clinical impact of immunoglobulin deficiencies in ataxia telangiectasia
4. IL-7 receptor signaling drives human B-cell progenitor differentiation and expansion
5. Human and mouse early B cell development: so similar but so different
6. NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
7. Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
8. A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA
9. Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
10. An essential role for the Zn2+ transporter ZIP7 in B cell development
11. A novel digital PCR-based method to quantify (switched) B cells reveals the extent of allelic involvement in different recombination processes in the IGH locus
12. Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child
13. Potential role of B- and NK-cells in the pathogenesis of pediatric aplastic anemia through deep phenotyping.
14. Case report: Persistent hypogammaglobulinemia and mixed chimerism after HLA class-II disparate-hematopoietic stem cell transplant.
15. Second Tier Testing to Reduce the Number of Non-actionable Secondary Findings and False-Positive Referrals in Newborn Screening for Severe Combined Immunodeficiency
16. NGS-Based B-Cell Receptor Repertoire AnalysisRepertoire analyses in the Context of Inborn Errors of Immunity
17. ATM: Translating the DNA Damage Response to Adaptive Immunity
18. Development of adaptive immune cells and receptor repertoires from infancy to adulthood
19. Class-Switch Recombination Defects
20. Pediatric Bone Marrow Failure: A Broad Landscape in Need of Personalized Management
21. Persistent Hypogammaglobulinemia after Receiving Rituximab Post-HSCT Is Not Caused by an Intrinsic B Cell Defect
22. A large single‐center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey
23. Contributors
24. Polymerase [delta] deficiency causes syndromic immunodeficiency with replicative stress
25. Defects in memory B-cell and plasma cell subsets expressing different immunoglobulin-subclasses in patients with CVID and immunoglobulin subclass deficiencies
26. Recombination activity of human recombination-activating gene 2 (RAG2) mutations and correlation with clinical phenotype
27. B-cell development and functions and therapeutic options in adenosine deaminase–deficient patients
28. Deficiencies in the CD19 complex
29. Primary Immune Deficiency Treatment Consortium (PIDTC) report.
30. Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.
31. A large single‐center cohort of bare lymphocyte syndrome: Immunological and genetic features in Turkey.
32. Heterogeneity in RAG 1/2 Deficiency: 35 Cases From A Single Center
33. Adaptive antibody diversification through N -linked glycosylation of the immunoglobulin variable region
34. Contributors
35. Ig Heavy Chain Deletions
36. Isotype defects
37. Nonhomologous End-Joining
38. An evaluation of the TREC assay with regard to the integration of SCID screening into the Dutch newborn screening program
39. Genetic defects in PI3Kδ affect B-cell differentiation and maturation leading to hypogammaglobulineamia and recurrent infections
40. Class-Switch Recombination Defects
41. IgM Augments Complement Bactericidal Activity with Serum from a Patient with a Novel CD79a Mutation
42. Epigenetic Immune Cell Counting to Analyze Potential Biomarkers in Preterm Infants: A Proof of Principle in Necrotizing Enterocolitis
43. XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination
44. Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome
45. Identification of checkpoints in human T-cell development using severe combined immunodeficiency stem cells
46. CD21 and CD19 deficiency: Two defects in the same complex leading to different disease modalities
47. The presence of CLL-associated stereotypic B cell receptors in the normal BCR repertoire from healthy individuals increases with age
48. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency
49. B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome
50. Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency
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