Human Germline Biallelic Loss-of-Function OSMR Variants Cause Severe Allergic Disease
Simran Samra, Mehul Sharma, Julia Körholz, Kate L. Del Bel et autres
0 citationsJournal of Human Immunity
Julia Körholz
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41Publications signalées
881Citations signalées
2Affiliations récentes
Institutions déclarées
Domaines associés
Immunodeficiency and Autoimmune DisordersChronic Lymphocytic Leukemia ResearchImmune Cell Function and InteractionAutoimmune and Inflammatory Disorders ResearchGenomics and Rare Diseases
Publications récentes
Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients
Svjetlana Lovric, Ann-Cathrine Berking, Felix C. Ringshausen, Julia Körholz et autres
2 citationsOrphanet Journal of Rare Diseases
Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients
Svjetlana Lovric, Ann-Cathrine Berking, Felix C. Ringshausen, Julia Körholz et autres
0 citationsFigshare
Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients
Svjetlana Lovric, Ann-Cathrine Berking, Felix C. Ringshausen, Julia Körholz et autres
0 citationsFigshare
Additional file 1 of Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients
Svjetlana Lovric, Ann-Cathrine Berking, Felix C. Ringshausen, Julia Körholz et autres
0 citationsFigshare
Additional file 1 of Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients
Svjetlana Lovric, Ann-Cathrine Berking, Felix C. Ringshausen, Julia Körholz et autres
0 citationsFigshare
IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency
Julia Körholz, Samantha A. M. Tromp, Virgil ASH Dalm, Maaike de Bie et autres
0 citationsZurich Open Repository and Archive (University of Zurich)
Inborn errors of immunity: Manifestation, treatment, and outcome—an ESID registry 1994–2024 report on 30,628 patients
Gerhard Kindle, Mickaël Alligon, Michael H. Albert, Matthew Buckland et autres
32 citationsJournal of Human Immunity
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Kathrin Grundmann, Theresa Brunet et autres
0 citationsNature Genetics
IKBKB gain of function: An inborn error with clinical heterogeneity progressing toward combined immunodeficiency
Julia Körholz, Samantha A. M. Tromp, Virgil A. S. H. Dalm, Maaike de Bie et autres
4 citationsJournal of Allergy and Clinical Immunology
Clinical manifestations, disease penetrance, and treatment in individuals with SOCS1 insufficiency: a registry-based and population-based study
Jérôme Hadjadj, Anna Franziska Wolfers, Oleg V. Borisov, Derek Hazard et autres
15 citationsThe Lancet Rheumatology
Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Axel Schmidt, Magdalena Danyel, Luisa Averdunk, Lilian Kaufmann et autres
0 citationsRWTH Publications (RWTH Aachen)
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