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Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis.
- Published in:
- American Journal of Hematology, 2014, v. 89, n. 10, p. 985, doi. 10.1002/ajh.23807
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- Article
Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference.
- Published in:
- British Journal of Haematology, 2008, v. 142, n. 6, p. 859, doi. 10.1111/j.1365-2141.2008.07269.x
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- Article
Colorectal cancer screening and surveillance strategy for patients with Diamond Blackfan anemia: Preliminary recommendations from the Diamond Blackfan Anemia Registry.
- Published in:
- Pediatric Blood & Cancer, 2021, v. 68, n. 8, p. 1, doi. 10.1002/pbc.28984
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- Article
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
- Published in:
- Human Genetics, 2013, v. 132, n. 11, p. 1265, doi. 10.1007/s00439-013-1326-z
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- Article
Improving clinical care and elucidating the pathophysiology of Diamond Blackfan anemia: An update from the Diamond Blackfan Anemia Registry.
- Published in:
- Pediatric Blood & Cancer, 2006, v. 46, n. 5, p. 558, doi. 10.1002/pbc.20642
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- Publication type:
- Article
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
- Published in:
- Human Mutation, 2012, v. 33, n. 7, p. 1037, doi. 10.1002/humu.22081
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- Article