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Year Number of Results
2002 1
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2011 6
2012 4
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PubMed (GeneRIF) for id: 6223

60 results

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Page 1
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
Takafuji S, Mori T, Nishimura N, Yamamoto N, Uemura S, Nozu K, Terui K, Toki T, Ito E, Muramatsu H, Takahashi Y, Matsuo M, Yamamura T, Iijima K. Takafuji S, et al. Pediatr Hematol Oncol. 2021 Sep;38(6):515-527. doi: 10.1080/08880018.2021.1887984. Epub 2021 Feb 24. Pediatr Hematol Oncol. 2021. PMID: 33622161 Clinical Trial.
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA, Cuvelier G, Klaassen RJ, Fernandez CV, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton JH, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror Y. Arbiv OA, et al. Clin Genet. 2018 Feb;93(2):320-328. doi: 10.1111/cge.13158. Epub 2017 Dec 27. Clin Genet. 2018. PMID: 29044489
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E, Vetro A, Mina T, Wischmeijer A, Berrino E, Carella M, Romagnoli M, Sacchini P, Venesio T, Zecca M, Zuffardi O. Errichiello E, et al. Blood Cells Mol Dis. 2017 May;64:38-44. doi: 10.1016/j.bcmd.2017.03.002. Epub 2017 Mar 6. Blood Cells Mol Dis. 2017. PMID: 28376382 Free PMC article.
60 results