350 results on '"de Boer, Martin"'
Search Results
2. Hematologically important mutations: Leukocyte adhesion deficiency (second update)
3. Extensive Ethnic Variation and Linkage Disequilibrium at the FCGR2/3 Locus: Different Genetic Associations Revealed in Kawasaki Disease.
4. Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)
5. Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)
6. Mutations in cis that affect mRNA synthesis, processing and translation
7. Clinical and Immunological Characteristics of 63 Patients with Chronic Granulomatous Disease: Hacettepe Experience
8. MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization
9. Alternative trafficking of Weibel‐Palade body proteins in CRISPR/Cas9‐engineered von Willebrand factor–deficient blood outgrowth endothelial cells
10. Very early onset inflammatory bowel disease: Investigation of the IL-10 signaling pathway in Iranian children
11. Mutation in an exonic splicing enhancer site causing chronic granulomatous disease
12. Mutation characterization and heterodimer analysis of patients with leukocyte adhesion deficiency: Including one novel mutation
13. Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients
14. p47phox-/- Chronic Granulomatous Disease Patient with Incomplete Kawasaki Disease
15. Formal Specification and Verification of JDK’s Identity Hash Map Implementation
16. A founder effect for p47phoxTrp193Ter chronic granulomatous disease in Kavkazi Jews
17. Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)
18. Diagnosis of Interstitial Lung Disease Caused by Possible Hypersensitivity Pneumonitis in a Child: Think CGD
19. Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease
20. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients
21. Different unequal cross-over events between NCF1 and its pseudogenes in autosomal p47phox-deficient chronic granulomatous disease
22. Hermansky–Pudlak syndrome type 2: Aberrant pre‐mRNA splicing and mislocalization of granule proteins in neutrophils
23. Early Complement Component Deficiency in a Single-Centre Cohort of Pediatric Onset Lupus
24. Hematologically important mutations: Leukocyte adhesion deficiency (first update)
25. Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients
26. A model for cellular development in morphogenetic fields
27. Rapid Genetic Analysis of X-Linked Chronic Granulomatous Disease by High-Resolution Melting
28. Hematologically important mutations: X-linked chronic granulomatous disease (third update)
29. Hematologically important mutations: The autosomal recessive forms of chronic granulomatous disease (second update)
30. Complement factor 7 gene mutations in relation to meningococcal infection and clinical recurrence of meningococcal disease
31. Construction of map OL-systems for developmental sequences of plant cell layers
32. Animation of the Development of Multicellular Structures
33. LAD-1/variant syndrome is caused by mutations in FERMT3
34. High-throughput analysis of the C4 polymorphism by a combination of MLPA and isotype-specific ELISA's
35. Rare Duplication or Deletion of Exons 6, 7 and 8 in CYBB Leading to X-Linked Chronic Granulomatous Disease in Two Patients from Different Families
36. Two X-Linked Chronic Granulomatous Disease Patients with Unusual NADPH Oxidase Properties
37. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura
38. Chronic granulomatous disease in Israel: Clinical, functional and molecular studies of 38 patients
39. Molecular Basis of Autosomal Recessive Chronic Granulomatous Disease in Iran
40. Primary Immunodeficiency Caused by an Exonized Retroposed Gene Copy Inserted in the CYBB Gene
41. Diagnostic Challenges in the Early Onset of Inflammatory Bowel Disease: A Case Report
42. Molecular basis of glutathione reductase deficiency in human blood cells
43. Prenatal Diagnosis of Chronic Granulomatous Disease in a Male Fetus
44. Chronic granulomatous disease – haematopoietic stem cell transplantation versus conventional treatment
45. Neutrophil responsiveness to IgG, as determined by fixed ratios of mRNA levels for activating and inhibitory FcγRII (CD32), is stable over time and unaffected by cytokines
46. Evidence consistent with human L1 retrotransposition in maternal meiosis I
47. Clinical, Immunological, and Molecular Profile of Chronic Granulomatous Disease: A Multi-Centric Study of 236 Patients From India
48. Copy Number Variation at the FCGR Locus Includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B
49. A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease
50. Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB
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