761 results on '"Somech, Raz"'
Search Results
52. MHC II deficient infant identified by newborn screening program for SCID
53. Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma
54. Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency
55. T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
56. Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome
57. Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A)
58. SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients
59. A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients
60. Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs
61. Correction: Pediatric literature trends: high-level analysis using text-mining
62. Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
63. Immune and TRG repertoire signature of the thymus in Down syndrome patients
64. B-Actin Deficiency
65. Rac2 Deficiency
66. Localized Juvenile Periodontitis
67. Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies
68. CRISPR-Cas9 RAG2 Correction via Coding Sequence Replacement to Preserve Endogenous Gene Regulation and Locus Structure
69. Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience
70. SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma
71. The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation
72. Survival of the fetus: fetal B and T cell receptor repertoire development
73. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
74. RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features
75. Multiplex HDR for Disease and Correction Modeling of SCID by CRISPR Genome Editing in Human HSPCs
76. Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia
77. A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF)
78. Combined immunodeficiency in a patient with mosaic monosomy 21
79. Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1
80. Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?
81. Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses
82. Immune function in newborns with in-utero exposure to anti-TNFα therapy
83. Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires
84. Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients
85. Insight into normal thymic activity by assessment of peripheral blood samples
86. Hematologically important mutations: Leukocyte adhesion deficiency (first update)
87. GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis
88. 524: PATHOGENIC RIPK1 MUTATIONS CAUSE INFANTILE-ONSET IBD WITH INFLAMMATORY AND FISTULIZING FEATURES
89. Hypoparathyroidism and central diabetes insipidus: in search of the link
90. Evolution of Gene Therapy for Inborn Errors of Immunity.
91. Novel RIPK1 Mutations Causing Infantile-onset IBD with Inflammatory and Fistulizing Features
92. Prodromes as predictors of hereditary angioedema attacks
93. Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia
94. Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient
95. Post-childhood Presentation and Diagnosis of DiGeorge Syndrome
96. Characterization of ζ-associated protein, 70 kd (ZAP70)–deficient human lymphocytes
97. Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome
98. Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma
99. Correlation between ‘ACKR1/DARC null’ polymorphism and benign neutropenia in Yemenite Jews
100. Phase 1/2 study of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or Philadelphia chromosome–positive acute lymphoblastic leukemia
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