Suchergebnisse - "Egner, William"

PubPharm (27)

1

Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma

enthalten in: Journal of clinical immunology | 2023

von Minskaia, E. | Maimaris, J. | Jenkins, P. | +110

2

Practical challenges for functional validation of STAT1 gain of function genetic variants

enthalten in: Clinical and experimental immunology | 2023

von Albuquerque, A. | Maimaris, J. | McKenna, A. | +109

3

GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements

enthalten in: Nature communications | 2022

von Dixon, P. | Levine, A. | Cebola, I. | +121

4

Current laboratory and clinical practices in reporting and interpreting anti-nuclear antibody indirect immunofluorescence (ANA IIF) patterns : results of an international survey

enthalten in: Auto- immunity highlights | 2020

von Van Hoovels, L. | Broeders, S. | Chan, E. | +27

5

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

enthalten in: The Journal of allergy and clinical immunology | 2020

von Lorenzini, T. | Fliegauf, M. | Klammer, N. | +173

ErratumIn: J Allergy Clin Immunol. 2021 Nov;148(5):1345. - PMID 34743834

6

Flucloxacillin Hypersensitivity : Patient Outcomes in a Multicenter Retrospective Study

enthalten in: The journal of allergy and clinical immunology. In practice | 2019

von Kennard, L. | Rutkowski, K. | Siew, L. | +6

7

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

enthalten in: The Journal of experimental medicine | 2019

von Spencer, S. | Köstel Bal, S. | Egner, W. | +35

CommentIn: J Exp Med. 2019 Sep 2;216(9):1969-1971. - PMID 31235508

8

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans

enthalten in: The Journal of allergy and clinical immunology | 2018

von Tuijnenburg, P. | Lango Allen, H. | Burns, S. | +128

CommentIn: J Allergy Clin Immunol. 2018 Oct;142(4):1062-1065. - PMID 30165054

9

An international survey on anti-neutrophil cytoplasmic antibodies (ANCA) testing in daily clinical practice

enthalten in: Clinical chemistry and laboratory medicine | 2018

von Damoiseaux, J. | Heijnen, I. | Van Campenhout, C. | +11

10

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

enthalten in: American journal of human genetics | 2018

von Whitworth, J. | Smith, P. | Martin, J. | +141