Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Anemia and RPS19[original query] |
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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 |
Genetic variants in the noncoding region of RPS19 gene in Diamond-Blackfan anemia: potential implications for phenotypic heterogeneity. American journal of hematology 2010 Feb 85 (2): 111-6. Crétien Aurore, Proust Alexis, Delaunay Jean, Rincé Patricia, Leblanc Thierry, Ducrocq Rolande, Simansour Maud, Marie Isabelle, Tamary Hannah, Meerpohl Jörg, Niemeyer Charlotte, Gazda Hanna, Sieff Colin, Ball Sarah, Tchernia Gil, Mohandas Narla, Da Costa Lyd |
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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