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Fibroblast-based radiosensitivity assays as a clinically valuable tool for (severe) combined immunodeficiency syndromes
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- Journal Article
- A1
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID
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- Miscellaneous
- open access
Editorial : the role of transcription factors in inborn errors of immunity
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- Journal Article
- A1
- open access
Comparison of SARS-CoV-2 seroconversion in children with chronic diseases with healthy children and adults during the first waves of the COVID-19 pandemic
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- Conference Paper
- C3
- open access
Fibroblast-based radiosensitivity assessment for primary immunodeficiency patients
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Familial hemophagocytic lymphohistiocytosis type 3 presenting as neonatal cholestasis and splenomegaly
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- Conference Paper
- C3
- open access
Delayed presentations of severe combined immunodeficiency during the SARS‑CoV‑2 pandemic
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- Journal Article
- A1
- open access
A novel non-coding variant in DCLRE1C results in deregulated splicing and induces SCID through the generation of a truncated ARTEMIS protein that fails to support V(D)J recombination and DNA damage repair