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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 8, 2024. (Total: 234175Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Anemia and RPS14[original query]
Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Haematologica 2010 Feb 95 (2): 206-13.
Quarello Paola, Garelli Emanuela, Carando Adriana, Brusco Alfredo, Calabrese Roberto, Dufour Carlo, Longoni Daniela, Misuraca Aldo, Vinti Luciana, Aspesi Anna, Biondini Laura, Loreni Fabrizio, Dianzani Irma, Ramenghi U
Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Haematologica 2010 Apr .
Konno Y, Toki T, Tandai S, Xu G, Wang R, Terui K, Ohga S, Hara T, Hama A, Kojima S, Hasegawa D, Kosaka Y, Yanagisawa R, Koike K, Kanai R, Imai T, Hongo T, Park MJ, Sugita K, Ito E
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Human mutation 2020 8 41 (11): 1918-1930.
Bhar Saleh, Zhou Fujun, Reineke Lucas C, Morris Danna K, Khincha Payal P, Giri Neelam, Mirabello Lisa, Bergstrom Katie, Lemon Laramie D, Williams Christopher L, Toh Yukimatsu, Elghetany M Tarek, Lloyd Richard E, Alter Blanche P, Savage Sharon A, Bertuch Alison
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