Associated Papers
Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility.
Elbadry MI et al.
Annals of Hematology, 2025
40047910 (PubMed )
Supplement: 277_2025_6257_MOESM1_ESM.pdf
Cernunnos defect in an Iranian patient with T- B+ NK+ severe combined immunodeficiency: A case report and review of the literature.
Jamee M et al.
Molecular Genetics & Genomic Medicine, 2022
Case Report: Refractory Cytopenia With a Switch From a Transient Monosomy 7 to a Disease-Ameliorating del(20q) in a NHEJ1-Deficient Long-term Survivor.
Poyer F et al.
Frontiers in Immunology, 2022
DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.
Sharma R et al.
Frontiers in Pediatrics, 2020
Targeted mutation screening of 292 candidate genes in 38 children with inborn haematological cytopenias efficiently identifies novel disease-causing mutations.
Kager L et al.
British Journal of Haematology, 2018
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