268 results on '"Sanal, O"'
Search Results
2. Clinical Variants of Ataxia-Telangiectasia
3. SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION IN THREE CHILDREN WITH DOCK8 DEFIENCY: PH-AB140
4. Isolated cutaneous response to granulocyte-monocyte colony stimulating factor in fatal idiopathic disseminated Bacillus-Calmette-Guerin infection
5. Impaired IgG Antibody Production to Pneumococcal Polysaccharides in Patients with Ataxia–Telangiectasia
6. Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency
7. A case of X linked agammaglobulinaemia complicated with systemic amyloidosis
8. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype
9. The European internet-based patient and research database for primary immunodeficiencies: update 2011
10. Mutations in the signal transducer and activator of transcription 3 (STAT3) and diagnostic guidelines for the Hyper-IgE syndrome
11. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008
12. Diagnostic criteria for the hyper IgE recurrent infection syndrome/Job’s syndrome/STAT3 deficiency
13. MANAGEMENT OF DOCK8 DEFICIENCY BY HEMATOPOIETIC STEM CELL TRANSPLANTATION (HSCT)
14. Dock8 deficiency and a diagnostic score to differentiate it from other Hyper-IGE syndromes
15. Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?
16. Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation
17. H2Ax Gene Does Not Have A Modifier Effect On Ataxia-Telangiectasia Phenotype
18. Combined immunodeficiency with CD4 lymphopenia and sclerosing cholangitis caused by a novel loss-of-function mutation affecting IL21R
19. Reduced memory B cells in patients with hyper IgE syndrome
20. Differentiation of gp91phox and p47phox defect with DHR 123 test patterns and flowcytometric analysis with anti-nadph oxidase component antibodies
21. Cernunnos, a novel V(D)J recombination /non homologus end-joining factor, is mutated in human T and B cell immunodeficiency associated with microcephaly
22. Hyper IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination
23. Polymorphism of the fourth component of complement in groups of children with recurrent infections and antibody deficiency
24. Polymorphism of the fourth component of complement in Turks
25. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper IgM syndrome (HIGM2)
26. Residual type 1 immunity in patients genetically deficient for interleukin 12 receptor beta1 (IL-12Rbeta1): evidence for an IL-12Rbeta1-independent pathway of IL-12 responsiveness in human T cells
27. Splicing defects in the Ataxia- Telangiectasia gene, ATM: Underlying mutations and Phenotypic consequences
28. A case of X linked agammaglobulinaemia complicated with systemic amyloidosis
29. Heterogeneity in Ataxia Telangiectasia: various laboratory features of 56 cases
30. Identification of ATM mutations using extended RT-PCR and restriction endonuclease
31. Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting and elucidation of the repertoire of A-T mutations in Israel
32. CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome
33. Lymphoproliferative disorders in patients with primary immuno-deficiencies
34. Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease
35. Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia
36. Reduced memory B cells in patients with hyper IgE syndrome
37. Ataxia-telangiectasia: linkage evidence for genetic heterogeneity
38. Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family
39. Further mapping of an ataxia-telangiectasia locus to the chromosome 11q23 region
40. Toward Gene Therapy for Human CD3 Deficiencies
41. Erratum: Genetics, cytokines and human infectious disease: lessons from weakly pathogenic mycobacteria and salmonellae
42. Antibody production against pneumococcal polysaccharide in patients with ataxia-telangiectasia
43. Human T cell repertoire generation in the absence of MHC class II expression results in a circulating CD4+CD8- population with altered physicochemical properties of complementarity-determining region 3.
44. Genetic Haplotyping of Ataxia-telangiectasia Families Localizes the Major Gene to an ∼ 850 kb Region on Chromosome 11q23.1
45. Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an ~850 kb region on chromosome 11 q23.1
46. A case of chronic severe neutropenia: oral findings and consequences of short-term granulocyte colony-stimulating factor treatment.
47. Periodical gingival bleeding as a presenting symptom of periodontitis due to underlying cyclic neutropenia. Case report.
48. Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.
49. High levels of delayed radiation-induced apoptosis observed in lymphoblastoid cell lines from ataxia-telangiectasia patients
50. Altered apoptotic profiles in irradiated patients with increased toxicity - The significance of apoptosis
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