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1.
Genotype-phenotype association and variant characterization in Diamond-Blackfan anemia caused by pathogenic variants in RPL35A.
Haematologica;
106(5): 1303-1310, 2021 05 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-32241839
2.
L-leucine improves anemia and growth in patients with transfusion-dependent Diamond-Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond-Blackfan Anemia Registry.
Pediatr Blood Cancer;
67(12): e28748, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33025707
3.
Endocrine Dysfunction in Diamond-Blackfan Anemia (DBA): A Report from the DBA Registry (DBAR).
Pediatr Blood Cancer;
63(2): 306-12, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26496000
4.
Increased Prevalence of Congenital Heart Disease in Children With Diamond Blackfan Anemia Suggests Unrecognized Diamond Blackfan Anemia as a Cause of Congenital Heart Disease in the General Population: A Report of the Diamond Blackfan Anemia Registry.
Circ Genom Precis Med;
11(5): e002044, 2018 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-29748317
5.
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations.
Br J Haematol;
127(1): 105-13, 2004 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-15384984
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