47 results on '"Chapgier A"'
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2. HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3
3. La plate-forme interactive « Signalement-Ambroisie » : un outil participatif de lutte contre l’ambroisie
4. The kinetochore protein,CENPF, is mutated in human ciliopathy and microcephaly phenotypes
5. Hira-Dependent Histone H3.3 Deposition Facilitates PRC2 Recruitment at Developmental Loci in ES Cells
6. Réintroduire l’eau dans la ville, mais pas les moustiques !
7. Évaluation de l’état des milieux récepteurs par station de surveillance
8. Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease
9. Urban flood risk assessment using sewer flooding databases
10. THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1
11. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
12. Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds
13. Avant-Propos
14. Revisiting Human IL-12Rβ1 Deficiency
15. Distinct Factors Control Histone Variant H3.3 Localization at Specific Genomic Regions
16. Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN‐γ receptor 1 deficiency
17. Disseminated Mycobacterium scrofulaceum infection in a child with interferon-γ receptor 1 deficiency
18. A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon
19. SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION FROM AN UNRELATED DONOR IN A CHILD WITH INTERFERON GAMMA RECEPTOR DEFICIENCY
20. A partial form of recessive STAT1 deficiency in humans
21. Avant-Propos
22. Inborn errors of interferon (IFN)‐mediated immunity in humans: insights into the respective roles of IFN‐α/β, IFN‐γ, and IFN‐λ in host defense
23. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
24. Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation
25. Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation
26. Infections Due to Various Atypical Mycobacteria in a Norwegian Multiplex Family with Dominant Interferon- Receptor Deficiency
27. TLR3 Deficiency in Patients with Herpes Simplex Encephalitis
28. BCG-osis and tuberculosis in a child with chronic granulomatous disease
29. Human primary immunodeficiencies of type I interferons
30. Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]
31. Infection multifocale à Mycobacterium intracellulare: premier cas de déficit partiel dominant du récepteur de l'interféron gamma en milieu tropical français
32. Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features
33. Prédisposition génétique et infections de l'enfant
34. T Cell-Dependent Activation of Dendritic Cells Requires IL-12 and IFN-γ Signaling in T Cells
35. Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease
36. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease
37. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
38. Successful hematopoietic stem cell transplantation in a child with active disseminated Mycobacterium fortuitum infection and interferon-γ receptor 1 deficiency
39. Les mutations « gain de glycosylation »
40. Human Complete Stat-1 Deficiency Is Associated with Defective Type I and II IFN Responses In Vitro but Immunity to Some Low Virulence Viruses In Vivo
41. Disseminated nontuberculous mycobacterial infection in a child with interferon-γ receptor 1 deficiency
42. Disseminated Mycobacterium avium Infection in a 20-Year-Old Female with Partial Recessive IFNγR1 Deficiency
43. Inherited disorders of the IL-12-IFN-γ axis in patients with disseminated BCG infection
44. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations
45. Autosomal-dominant primary immunodeficiencies
46. Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes
47. Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency
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