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Cytokine multiplex in clinical practice : resolving FUO/IUO
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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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Identification of a 5-plex cytokine signature that differentiates patients with multiple systemic inflammatory diseases
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Expanding molecular and clinical phenotype of Seckel syndrome : ATRIP deficient patient reveals novel insights in ATR signalling pathway
(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1549-1550 -
Implementation of machine learning-based multiplex cytokine analysis for resolving FUO/IUO (fever and inflammation of unknown origin) : a tertiary hospital experience
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- Miscellaneous
- open access
ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency
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Age-dependent signature of serum inflammatory cytokines in healthy children and young adults
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Age-dependent signature of serum inflammatory cytokines IL-1Ra, IL-1β, IL-6, IL-18, TNF-α, CXCL9 and CXCL10 in healthy children
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- Journal Article
- A1
- open access
GTF3A mutations predispose to herpes simplex encephalitis by disrupting biogenesis of the host-derived RIG-I ligand RNA5SP141
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- Journal Article
- A1
- open access
TIM3+ TRBV11-2 T cells and IFNγ signature in patrolling monocytes and CD16+ NK cells delineate MIS-C