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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Anemia and RPL11[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
Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Clinical genetics 2017 10 93 (2): 320-328.
Arbiv O A, Cuvelier G, Klaassen R J, Fernandez C V, Robitaille N, Steele M, Breakey V, Abish S, Wu J, Sinha R, Silva M, Goodyear L, Jardine L, Lipton J H, Corriveau-Bourque C, Brossard J, Michon B, Ghemlas I, Waespe N, Zlateska B, Sung L, Cada M, Dror
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
NPJ genomic medicine 2019 4 30.
Lauhasurayotin Supanun, Cuvelier Geoff D, Klaassen Robert J, Fernandez Conrad V, Pastore Yves D, Abish Sharon, Rayar Meera, Steele MacGregor, Jardine Lawrence, Breakey Vicky R, Brossard Josee, Sinha Roona, Silva Mariana, Goodyear Lisa, Lipton Jeffrey H, Michon Bruno, Corriveau-Bourque Catherine, Sung Lillian, Shabanova Iren, Li Hongbing, Zlateska Bozana, Dhanraj Santhosh, Cada Michaela, Scherer Stephen W, Dror Yig
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