205 results on '"Sanal, Özden"'
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2. A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects
3. Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome
4. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association
5. The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency
6. Low T Cell Numbers Resembling T−B+ SCID in a Patient with Wiskott–Aldrich Syndrome and the Outcome of Two Hematopoietic Stem Cell Transplantations
7. A single‐center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class‐ Switch Recombination defects
8. Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL
9. Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients
10. DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients
11. Hematologically important mutations: Leukocyte adhesion deficiency (first update)
12. A Novel Mutation in Leukocyte Adhesion Deficiency Type II/CDGIIc
13. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome
14. Polymorphism of the Fourth Component of Complement in Turks
15. LAD-1/variant syndrome is caused by mutations in FERMT3
16. A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency
17. Griscelli syndrome types 1 and 3: analysis of four new cases and long-term evaluation of previously diagnosed patients
18. Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion
19. Hyperimmunoglobulinemia D and periodic fever syndrome; treatment with etanercept and follow-up
20. Natural history and early diagnosis of LAD-1/variant syndrome
21. IL-12Rβ1 Deficiency: Mutation Update and Description of the IL12RB1 Variation Database
22. Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation
23. Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene
24. Kindlin-3–independent adhesion of neutrophils from patients with leukocyte adhesion deficiency type III
25. Interleukin-12/-23 receptor beta 1 deficiency in an infant with draining BCG lymphadenitis
26. Chronic Granulomatous Disease Caused by Mutations Other Than the Common GT Deletion in NCF1, the Gene Encoding the p47phox Component of the Phagocyte NADPH Oxidase
27. Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination
28. Common variable immunodeficiency in a patient with neurofibromatosis
29. Alopecia Universalis in a Patient with Common Variable Immunodeficiency
30. Genetic analysis of patients with leukocyte adhesion deficiency: Genomic sequencing reveals otherwise undetectable mutations
31. B lymphocyte subsets and outcomes in patients with an initial diagnosis of transient hypogammaglobulinemia of infancy
32. The relationship between periodontal status and peripheral levels of neutrophils in two consanguineous siblings with severe congenital neutropenia: Case reports.
33. Epstein-Barr-Virus-Carrying Lymphoma In A Patient With Ataxia-Telangiectasia
34. Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences
35. Successful hematopoietic stem cell transplantation after myeloablative conditioning in three patients with dedicator of cytokinesis 8 deficiency (DOCK8) related Hyper IgE syndrome
36. The extended clinical phenotype of 64 patients with DOCK8 deficiency
37. Low T Cell Numbers Resembling T−B+ SCID in a Patient with Wiskott–Aldrich Syndrome and the Outcome of Two Hematopoietic Stem Cell Transplantations
38. RASGRP1 deficiency causes immunodeficiency with impaired cytoskeletal dynamics
39. Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients
40. Epstein-Barr virus (EBV)-specific cell-mediated and humoral immune responses in ataxia-telangectasia patients
41. The demographic datas of chronic granulomatous disease patients and the comparation of the clinical datas before and after interferon-gamma treatment in our country
42. Defective pneumococcal antibody response in patients with recurrent respiratory tract infections.
43. Tüberkülozda Genetic Yatkınlık: IL-12 Reseptör Beta1 Eksikliği Olan 8 Vaka
44. Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion
45. Osteochondritis dissecans in a patient with hyperimmunoglobulin E syndrome
46. Multifocal leiomyosarcomatosis in a 6-year-old child with epidermodysplasia verruciformis and immune defect
47. IL-12Rβ1 Deficiency: Mutation Update and Description of theIL12RB1Variation Database
48. A Novel Mutation in the Complement Component 3 Gene in a Patient with Selective IgA Deficiency
49. Two SCID cases with Cernunnos-XLF deficiency successfully treated by hematopoietic stem cell transplantation
50. PARVOVIRUS B19-INDUCED PERSISTENT PURE RED CELL APLASIA IN A CHILD WITH T-CELL IMMUNODEFICIENCY
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