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Replication stress, microcephalic primordial dwarfism, and compromised immunity in ATRIP deficient patients
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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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Fibroblast-based radiosensitivity assays as a clinically valuable tool for (severe) combined immunodeficiency syndromes
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ATRIP deficiency impairs the replication stress response and manifests as microcephalic primordial dwarfism and immunodeficiency.
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Insights into radiosensitivity and defective DNA repair in immunodeficiency syndromes
(2024) -
- Miscellaneous
- open access
Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond
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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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- Journal Article
- A1
- open access
The micronucleus assay on cryopreserved whole blood
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- Conference Paper
- C3
- open access
Fibroblast-based radiosensitivity assessment for primary immunodeficiency patients
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- Journal Article
- A1
- open access
A clinically annotated post-mortem approach to study multi-organ somatic mutational clonality in normal tissues