UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study

Nephrology, dialysis, transplantation, 2015-04, Vol.30 Suppl 1, p.i104-i112

2015

Volltextzugriff (PDF)

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

Journal of allergy and clinical immunology, 2018-02, Vol.141 (2), p.770-775.e1

2018

Volltextzugriff (PDF)

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Gastroenterology (New York, N.Y. 1943), 2023-04, Vol.164 (4), p.579-592.e8

2023

Volltextzugriff (PDF)

Mevalonate kinase deficiency: a survey of 50 patients

Pediatrics (Evanston), 2011-07, Vol.128 (1), p.e152-e159

2011

Volltextzugriff (PDF)

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

Journal of medical genetics, 2020-04, Vol.57 (4), p.269-273

2020

Volltextzugriff (PDF)

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

Journal of clinical immunology, 2019-04, Vol.39 (3), p.298-308

2019

Volltextzugriff (PDF)

Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans

Molecular and Cellular Biology, 2013-02, Vol.33 (4), p.701-711

2013

Volltextzugriff (PDF)

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

Blood, 2014-09, Vol.124 (10), p.1597-1609

2014

Volltextzugriff (PDF)

Osteopetrosis mimicking juvenile myelomonocytic leukemia

Pediatrics international, 2014-10, Vol.56 (5), p.779-782

2014

Volltextzugriff (PDF)

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

Journal of allergy and clinical immunology, 2020-05, Vol.145 (5), p.1452-1463

2020

Volltextzugriff (PDF)

TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C

The Journal of experimental medicine, 2022-02, Vol.219 (2)

2022

Volltextzugriff (PDF)

Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes

BMC pharmacology & toxicology, 2013-08, Vol.14 (1), p.40-40, Article 40

2013

Volltextzugriff (PDF)

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

Blood, 2011-11, Vol.118 (18), p.4798-4807

2011

Volltextzugriff (PDF)

Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients

Journal of allergy and clinical immunology, 2023-06, Vol.151 (6), p.1634-1645

2023

Volltextzugriff (PDF)

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

Human mutation, 2019-05, Vol.40 (5), p.649-655

2019

Volltextzugriff (PDF)

Pneumococcal antibody levels in children with PID receiving immunoglobulin

Pediatrics (Evanston), 2014-01, Vol.133 (1), p.e154-e162

2014

Volltextzugriff (PDF)

Increased Expression of Bone Sialoprotein in Bone Metastases Compared with Visceral Metastases in Human Breast and Prostate Cancers

Journal of bone and mineral research, 2000-05, Vol.15 (5), p.834-843

2000

Volltextzugriff (PDF)

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

Blood, 2007-12, Vol.110 (13), p.4285-4292

2007

Volltextzugriff (PDF)

A case of osteosarcoma in a patient with pycnodysostosis

Journal of pediatric hematology/oncology, 2012-10, Vol.34 (7), p.545-547

2012

Volltextzugriff (PDF)

Thrombocytopaenia and Down Syndrome – What about the Usual Suspects?

Suntext Review of Case Reports & Images, 2023-09, Vol.4 (6)

2023

Volltextzugriff (PDF)

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes: GALLON et al

Human mutation, 2019-05, Vol.40 (5), p.649-655

2019

Volltextzugriff (PDF)

Diagnostic d'une fièvre prolongée chez l'enfant: Rhumatologie pédiatrique

Médecine thérapeutique pédiatrie, 2006, Vol.9 (1), p.10-15

2006

Volltextzugriff (PDF)

Osteopetrosis mimicking juvenile myelomonocytic leukemia

Pediatrics International, 2014, Vol.56 (5), p.779-782

2014

Volltextzugriff (PDF)

1 – 25 von 27

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(25)
Mit Volltextzugriff
(22)

Publikationsform

Sprache

Englisch
(26)
Französisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Clinical characteristics and outcomes of childhood-onset ANCA-associated vasculitis: a French nationwide study

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation

Constitutional Microsatellite Instability, Genotype, and Phenotype Correlations in Constitutional Mismatch Repair Deficiency

Mevalonate kinase deficiency: a survey of 50 patients

High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

Cernunnos Deficiency Reduces Thymocyte Life Span and Alters the T Cell Repertoire in Mice and Humans

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients

Osteopetrosis mimicking juvenile myelomonocytic leukemia

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score

TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C

Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation

Late-onset enteric virus infection associated with hepatitis (EVAH) in transplanted SCID patients

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes

FAS-L, IL-10, and double-negative CD4−CD8− TCR α/β+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

Pneumococcal antibody levels in children with PID receiving immunoglobulin

Increased Expression of Bone Sialoprotein in Bone Metastases Compared with Visceral Metastases in Human Breast and Prostate Cancers

Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes

A case of osteosarcoma in a patient with pycnodysostosis

Thrombocytopaenia and Down Syndrome – What about the Usual Suspects?

A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes: GALLON et al

FAS-L, IL-10, and double-negative CD4−CD8− TCR α/β+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function

Diagnostic d'une fièvre prolongée chez l'enfant: Rhumatologie pédiatrique

Osteopetrosis mimicking juvenile myelomonocytic leukemia

Suchergebnisse filtern