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Late diagnosis of chronic granulomatous disease

Clinical and experimental immunology, 2020-09, Vol.201 (3), p.297-305

2020

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Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis

Clinical and experimental immunology, 2019-04, Vol.196 (1), p.1-11

2019

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Exogenous interleukin‐2 can rescue in‐vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation

Clinical and experimental immunology, 2020-06, Vol.200 (3), p.215-227

2020

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Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course

Journal of investigational allergology & clinical immunology, 2023-01, Vol.33 (4), p.263-270

2023

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T and B cell clonal expansion in Ras‐associated lymphoproliferative disease (RALD) as revealed by next‐generation sequencing

Clinical and experimental immunology, 2017-09, Vol.189 (3), p.310-317

2017

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T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders

Current opinion in allergy and clinical immunology, 2011-12, Vol.11 (6), p.517-524

Somech, Raz

2011

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Different Effects Of ADA And PNP Deficiency On Thymocytes Development

Journal of allergy and clinical immunology, 2012-02, Vol.129 (2), p.AB138-AB138

2012

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Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

Clinical genetics, 2015-06, Vol.87 (6), p.602-603

2015

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Co‐existence of clonal expanded autologous and transplacental‐acquired maternal T cells in recombination activating gene‐deficient severe combined immunodeficiency

Clinical and experimental immunology, 2014-06, Vol.176 (3), p.380-386

2014

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Matched unrelated bone marrow transplant for T+ combined immunodeficiency

Bone marrow transplantation (Basingstoke), 2008-06, Vol.41 (11), p.947-952

2008

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Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment

Clinical and experimental immunology, 2012-02, Vol.167 (2), p.338-345

2012

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Bone marrow transplantation for cartilage-hair-hypoplasia

Bone marrow transplantation (Basingstoke), 2006-12, Vol.38 (11), p.751-756

2006

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Specific self-antigen-driven immune response in pericardial effusion as an isolated GVHD manifestation

Bone marrow transplantation (Basingstoke), 2010-06, Vol.45 (6), p.1084-1087

2010

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The effect of multiple siblings with cystic fibros is on disease progression

Paediatric respiratory reviews, 2011, Vol.12, p.S63-S63

2011

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The nuclear-envelope protein and transcriptional repressor LAP2β interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation

Journal of cell science, 2005-09, Vol.118 (17), p.4017-4025

2005

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DOP64 Pathogenic RIPK1 Mutations Cause Infantile-onset IBD with Inflammatory and Fistulizing Features

Journal of Crohn's and colitis, 2022-01, Vol.16 (Supplement_1), p.i109-i109

2022

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MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family

International journal of immunogenetics, 2009-08, Vol.36 (4), p.223-226

2009

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Histone deacetylase inhibitors – a new tool to treat cancer

Cancer treatment reviews, 2004-08, Vol.30 (5), p.461-472

2004

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Nuclear envelopathies : Raising the nuclear veil

Pediatric research, 2005-05, Vol.57 (5), p.8-15

2005

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DOP010 Activating PIK3CD mutations cause severe intestinal lymphonodular hyperplasia and an IBD-like phenotype

Journal of Crohn's and colitis, 2018-01, Vol.12 (supplement_1), p.S036-S037

2018

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Mutation Analysis should be Performed to Rule Out γc Deficiency in Children with Functional Severe Combined Immune Deficiency Despite Apparently Normal Immunologic Tests

The Journal of pediatrics, 2005-10, Vol.147 (4), p.555-557

2005

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Granulomatosis Cheilitis and Crohn Disease

Journal of pediatric gastroenterology and nutrition, 2001-03, Vol.32 (3), p.339-341

2001

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Microarray-based gene expression profiling of hematologic malignancies: basic concepts and clinical applications

Blood reviews, 2005-07, Vol.19 (4), p.223-234

2005

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Nilotinib (Tasigna) Therapy Post Allogeneic Stem Cell Transplantation (AlloSCT) for Advanced (>CP1 ) Chronic Myeloid Leukemia (CML) and Ph+ Acute Lymphoblastic Leukemia (ALL)

Biology of blood and marrow transplantation, 2012, Vol.18 (2), p.S365-S365

2012

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Late diagnosis of chronic granulomatous disease

Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis

Exogenous interleukin‐2 can rescue in‐vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation

Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course

T and B cell clonal expansion in Ras‐associated lymphoproliferative disease (RALD) as revealed by next‐generation sequencing

T-cell receptor excision circles in primary immunodeficiencies and other T-cell immune disorders

Different Effects Of ADA And PNP Deficiency On Thymocytes Development

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

Co‐existence of clonal expanded autologous and transplacental‐acquired maternal T cells in recombination activating gene‐deficient severe combined immunodeficiency

Matched unrelated bone marrow transplant for T+ combined immunodeficiency

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment

Bone marrow transplantation for cartilage-hair-hypoplasia

Specific self-antigen-driven immune response in pericardial effusion as an isolated GVHD manifestation

Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome

The effect of multiple siblings with cystic fibros is on disease progression

The nuclear-envelope protein and transcriptional repressor LAP2β interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation

DOP64 Pathogenic RIPK1 Mutations Cause Infantile-onset IBD with Inflammatory and Fistulizing Features

MHC class 2 deficiency and X-linked agammaglobulinaemia in a consanguineous extended family

Histone deacetylase inhibitors – a new tool to treat cancer

Nuclear envelopathies : Raising the nuclear veil

DOP010 Activating PIK3CD mutations cause severe intestinal lymphonodular hyperplasia and an IBD-like phenotype

Mutation Analysis should be Performed to Rule Out γc Deficiency in Children with Functional Severe Combined Immune Deficiency Despite Apparently Normal Immunologic Tests

Granulomatosis Cheilitis and Crohn Disease

Microarray-based gene expression profiling of hematologic malignancies: basic concepts and clinical applications

Nilotinib (Tasigna) Therapy Post Allogeneic Stem Cell Transplantation (AlloSCT) for Advanced (>CP1 ) Chronic Myeloid Leukemia (CML) and Ph+ Acute Lymphoblastic Leukemia (ALL)

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