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Year | Number of Results |
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2008 | 1 |
2009 | 1 |
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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Am J Hum Genet. 2008 Dec;83(6):769-80. doi: 10.1016/j.ajhg.2008.11.004.
Am J Hum Genet. 2008.
PMID: 19061985
Free PMC article.
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P, Garelli E, Carando A, Brusco A, Calabrese R, Dufour C, Longoni D, Misuraca A, Vinti L, Aspesi A, Biondini L, Loreni F, Dianzani I, Ramenghi U.
Quarello P, et al.
Haematologica. 2010 Feb;95(2):206-13. doi: 10.3324/haematol.2009.011783. Epub 2009 Sep 22.
Haematologica. 2010.
PMID: 19773262
Free PMC article.
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Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.
Muramatsu H, Okuno Y, Yoshida K, Shiraishi Y, Doisaki S, Narita A, Sakaguchi H, Kawashima N, Wang X, Xu Y, Chiba K, Tanaka H, Hama A, Sanada M, Takahashi Y, Kanno H, Yamaguchi H, Ohga S, Manabe A, Harigae H, Kunishima S, Ishii E, Kobayashi M, Koike K, Watanabe K, Ito E, Takata M, Yabe M, Ogawa S, Miyano S, Kojima S.
Muramatsu H, et al.
Genet Med. 2017 Jul;19(7):796-802. doi: 10.1038/gim.2016.197. Epub 2017 Jan 19.
Genet Med. 2017.
PMID: 28102861
Free article.
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