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  • Anaemie (Diamond Blackfan)
  • 5q minus syndrome
  • Dyskeratosis congenita
  • Cartilage hair hypoplasia
  • Ribosome
  • Shwachman Diamond s syndrome
  • Treacher Collins syndrome
  • RPS19
  • RPS14
  • Anemia (Fanconi anemia)
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    Citation
    12010Diamond Blackfan Anemia at the Crossroad between Ribosome Biogenesis and Heme Metabolism.



    +-nlAdv Hematol 2010(-):790632 (2010)
    22007Diamond-Blackfan anemia: erythropoiesis lost in translation.



    +-nlBlood 109(8):3152-4 (2007)
    32008Diamond-Blackfan anemia: a ribosomal puzzle.



    +-nlHaematologica 93(11):1601-4 (2008) Dianzani I
    42004Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature.



    +-nlHaematologica 89(4):480-9 (2004)
    51996Diamond-Blackfan anemia: a congenital defect in erythropoiesis.



    +-nlHaematologica 81(6):560-72 (1996)
    62010Ribosomopathies: human disorders of ribosome dysfunction.



    +-nlBlood 115(16):3196-205 (2010)
    72002Marrow failure.



    +-nlHematology Am Soc Hematol Educ Program -(-):58-72 (2002)



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