Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study.
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A transgenic mouse model demonstrates a dominant negative effect of a point mutation in the RPS19 gene associated with Diamond-Blackfan anemia.
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How I treat Diamond-Blackfan anemia.
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Diamond-Blackfan anemia, ribosome and erythropoiesis.
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Functional dichotomy of ribosomal proteins during the synthesis of mammalian 40S ribosomal subunits.
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Recurrent microdeletions of 15q25.2 are associated with increased risk of congenital diaphragmatic hernia, cognitive deficits and possibly Diamond--Blackfan anaemia.
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Tyrosine 87 is vital for the activity of human protein arginine methyltransferase 3 (PRMT3).
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Do ribosomopathies explain some cases of common variable immunodeficiency?
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