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Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon ActivationJOURNAL OF CLINICAL IMMUNOLOGYIF5.72020-01-2522PREAI
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-βSCIENCE IMMUNOLOGYIF16.32019-11-0139OAAI
High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicingRNA BIOLOGYIF3.42019-06-196OAAI
SERPING1 exon 3 splicing variants using alternative acceptor splice sitesMOLECULAR IMMUNOLOGYIF32019-03-018PREAI
No Major Effect of the CDH1 c.2440-6C>G Mutation on Splicing Detected in Last Exon-Specific Splicing Minigene AssayGENES CHROMOSOMES & CANCERIF2.82014-05-123PREAI
Sequence variants of the TNFRSF13B gene in Czech CVID and IgAD patients in the context of other populationsHUMAN IMMUNOLOGYIF2.22012-11-0122PREAI
No Evidence for Linkage between the Hereditary Angiooedema Clinical Phenotype and the BDKR1, BDKR2, ACE or MBL2 geneSCANDINAVIAN JOURNAL OF IMMUNOLOGYIF1.62011-06-0913OAAI
The production of mannan-binding lectin is dependent upon thyroid hormones regardless of the genotype: A cohort study of 95 patients with autoimmune thyroid disordersMOLECULAR IMMUNOLOGYIF32010-08-010PREAI
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