Associated Papers
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families.
Lee S et al.
Npj Genomic Medicine, 2025
41354729 (PubMed )
Supplement: 41525_2025_538_MOESM1_ESM.pdf
MECOM Deficiency: from Bone Marrow Failure to Impaired B-Cell Development.
Voit RA et al.
Journal of Clinical Immunology, 2023
Emerging bone marrow failure syndromes- new pieces to an unsolved puzzle.
Feurstein S
Frontiers in Oncology, 2023
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease.
Walne A et al.
Haematologica, 2018
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