Associated Papers
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Wertheim-Tysarowska K et al.
Orphanet Journal of Rare Diseases, 2024
39501396 (PubMed )
Supplement: 13023_2024_3395_MOESM3_ESM.docx
Crystal Structure of NLRP3 NACHT Domain With an Inhibitor Defines Mechanism of Inflammasome Inhibition.
Dekker C et al.
Journal of Molecular Biology, 2021
Computational Modeling of NLRP3 Identifies Enhanced ATP Binding and Multimerization in Cryopyrin-Associated Periodic Syndromes.
Samson JM et al.
Frontiers in Immunology, 2020
Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.
Diociaiuti A et al.
Orphanet Journal of Rare Diseases, 2016
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