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Zeitschrift Fur Rheumatologie|August 8, 2020
[Genetic diagnostics of autoinflammatory diseases]Oskar Schnappauf
Rheumatology (Oxford, England)|November 27, 2019
Current and future advances in genetic testing in systemic autoinflammatory diseasesOskar Schnappauf, Ivona Aksentijevich
Nature Reviews. Rheumatology|May 26, 2021
Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseasesIvona Aksentijevich, Oskar Schnappauf
Journal of Leukocyte Biology|July 18, 2020
Mendelian diseases of dysregulated canonical NF-κB signaling: From immunodeficiency to inflammationOskar Schnappauf, Ivona Aksentijevich
Frontiers in Immunology|August 29, 2019
The Pyrin Inflammasome in Health and DiseaseOskar Schnappauf, Jae Jin Chae, Daniel L Kastner, et al.
The Journal of Allergy and Clinical Immunology. Global|February 5, 2025
A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndromeOskar Schnappauf, Hongying Wang, Ivona Aksentijevich, et al.
Pediatric Rheumatology Online Journal|April 24, 2021
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case reportOskar Schnappauf, Liane Heale, Dilan Dissanayake, et al.
Frontiers in Immunology|March 17, 2023
Case report: Novel variants in RELA associated with familial Behcet's-like diseaseJason W An, Pallavi Pimpale-Chavan, Deborah L Stone, et al.
Communications Biology|July 4, 2025
The evolutionary path of the epithelial sodium channel δ-subunit in Cetartiodactyla points to a role in sodium sensingFynn Zahnow, Chiara Jäger, Yassmin Mohamed, et al.
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