UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 91

Sortiert nach

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Journal of rheumatology, 2020-01, Vol.47 (1), p.117

2020

Volltextzugriff (PDF)

Type I IFN–related NETosis in ataxia telangiectasia and Artemis deficiency

Journal of allergy and clinical immunology, 2018-07, Vol.142 (1), p.246-257

2018

Volltextzugriff (PDF)

A clinical score to guide in decision making for monogenic type I IFNopathies

Pediatric research, 2020-03, Vol.87 (4), p.745-752

2020

Volltextzugriff (PDF)

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis

Clinical immunology (Orlando, Fla.), 2018-02, Vol.187, p.92-94

2018

Volltextzugriff (PDF)

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

Journal of allergy and clinical immunology, 2016-03, Vol.137 (3), p.879-888.e2

2016

Volltextzugriff (PDF)

In case of recurrent wheezing and bronchiolitis: Think again, it may be a primary immunodeficiency

Asian Pacific journal of allergy and immunology, 2022-12, Vol.40 (4), p.442-446

2022

Volltextzugriff (PDF)

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

Journal of clinical immunology, 2024-10, Vol.44 (7), p.157, Article 157

2024

Volltextzugriff (PDF)

Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL

Molecular immunology, 2013-12, Vol.56 (4), p.354-357

2013

Volltextzugriff (PDF)

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

Journal of clinical immunology, 2012-08, Vol.32 (4), p.698-708

2012

Volltextzugriff (PDF)

Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPS

Turkish journal of pediatrics, 2015-03, Vol.57 (2), p.141-145

2015

Volltextzugriff (PDF)

DiGeorge Syndrome: Simultaneously Diagnosis of A Mother-Baby Pair With Great Clinical Variability

Gazi tıp dergisi, 2022-04, Vol.33 (2), p.179-182

2022

Volltextzugriff (PDF)

Successful treatment of severe myasthenia gravis developed after allogeneic hematopoietic stem cell transplantation with plasma exchange and rituximab

Pediatric blood & cancer, 2014-05, Vol.61 (5), p.928-930

2014

Volltextzugriff (PDF)

CVID Associated with Systemic Amyloidosis

Case reports in immunology, 2015-01, Vol.2015, p.879179-4

2015

Volltextzugriff (PDF)

Advantage of the subcutaneous immunoglobulin replacement therapy in primary immunodeficient patients with or without secondary protein loss

Turkish journal of pediatrics, 2018, Vol.60 (3), p.270-276

2018

Volltextzugriff (PDF)

Defective pneumococcal antibody response in patients with recurrent respiratory tract infections

Turkish journal of pediatrics, 2017, Vol.59 (5), p.555-560

2017

Volltextzugriff (PDF)

Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Journal of allergy and clinical immunology, 2014-02, Vol.133 (2), p.AB94-AB94

2014

Volltextzugriff (PDF)

Ocular Changes and Tear Cytokines in Individuals with Low Serum Vitamin D Levels: A Cross-Sectional, Controlled Study

Ocular immunology and inflammation, 2024-04, Vol.ahead-of-print (ahead-of-print), p.1-8

2024

Volltextzugriff (PDF)

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients

Turkish journal of pediatrics, 2016-08, Vol.58 (4), p.356-361

2016

Volltextzugriff (PDF)

First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up

Bone marrow transplantation (Basingstoke), 2022-07, Vol.57 (7), p.1210-1212

2022

Volltextzugriff (PDF)

A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature

Clinical immunology (Orlando, Fla.), 2017-05, Vol.178, p.74-78

2017

Volltextzugriff (PDF)

Anthropometric measurements and body composition analysis of obese adolescents with and without metabolic syndrome

Turkish journal of medical sciences, 2011-04

2011

Volltextzugriff (PDF)

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Clinical immunology (Orlando, Fla.), 2015-12, Vol.161 (2), p.316-323

2015

Volltextzugriff (PDF)

Tumor necrosis factor α‐308 G/A and interleukin 1 β‐511 C/T gene polymorphisms in patients with scarring acne

Journal of cosmetic dermatology, 2019-02, Vol.18 (1), p.395-400

2019

Volltextzugriff (PDF)

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature

Clinical immunology (Orlando, Fla.), 2018-12, Vol.197, p.1-5

2018

Volltextzugriff (PDF)

1 – 25 von 91

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(63)
Mit Volltextzugriff
(85)

Publikationsform

Artikel
(85)
Berichte
(5)
Bücher
(1)

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

A Monogenic Disease with a Variety of Phenotypes: Deficiency of Adenosine Deaminase 2

Type I IFN–related NETosis in ataxia telangiectasia and Artemis deficiency

A clinical score to guide in decision making for monogenic type I IFNopathies

Hypomorphic RAG1 defect in a child presented with pulmonary hemorrhage and digital necrosis

Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association

In case of recurrent wheezing and bronchiolitis: Think again, it may be a primary immunodeficiency

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

Atypical combined immunodeficiency due to Artemis defect: A case presenting as hyperimmunoglobulin M syndrome and with LGLL

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

Polymorphisms in FAS and CASP8 genes may contribute to the development of ALPS phenotype: a study in 25 patients with probable ALPS

DiGeorge Syndrome: Simultaneously Diagnosis of A Mother-Baby Pair With Great Clinical Variability

Successful treatment of severe myasthenia gravis developed after allogeneic hematopoietic stem cell transplantation with plasma exchange and rituximab

CVID Associated with Systemic Amyloidosis

Advantage of the subcutaneous immunoglobulin replacement therapy in primary immunodeficient patients with or without secondary protein loss

Defective pneumococcal antibody response in patients with recurrent respiratory tract infections

Coronin-1A Oligomerization Is Critical For Host Defense Against Viral Pathogens

Ocular Changes and Tear Cytokines in Individuals with Low Serum Vitamin D Levels: A Cross-Sectional, Controlled Study

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

First allogeneic hematopoietic stem cell transplantation in RASGRP1 deficiency: long-term follow-up

A novel mutation in TAP1 gene leading to MHC class I deficiency: Report of two cases and review of the literature

Anthropometric measurements and body composition analysis of obese adolescents with and without metabolic syndrome

STK4 (MST1) deficiency in two siblings with autoimmune cytopenias: A novel mutation

Tumor necrosis factor α‐308 G/A and interleukin 1 β‐511 C/T gene polymorphisms in patients with scarring acne

Two siblings with PRKDC defect who presented with cutaneous granulomas and review of the literature

Suchergebnisse filtern