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Material Type: Artigo
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SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemiaZemet, Roni ; Du, Haowei ; Gambin, Tomasz ; Lupski, James R. ; Liu, Pengfei ; Stankiewicz, PawełHuman genetics, 2023-06, Vol.142 (6), p.721-733 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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Multiparametric analysis of etoposide exposed mesenchymal stem cells and Fanconi anemia cells: implications in development of secondary myeloid malignancyÖzdemir, Cansu ; Muratoğlu, Bihter ; Özel, Buse Nurten ; Alpdündar-Bulut, Esin ; Tonyalı, Gülsena ; Ünal, Şule ; Uçkan-Çetinkaya, DuyguClinical and experimental medicine, 2023-12, Vol.23 (8), p.4511-4524 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Material Type: Artigo
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Role of RUNX Family Transcription Factors in DNA Damage ResponseSamarakkody, Ann Sanoji ; Shin, Nah-Young ; Cantor, Alan BMolecules and Cells, 2020, 43(2), , pp.99-106 [Periódico revisado por pares]United States: Korean Society for Molecular and Cellular BiologyTexto completo disponível |
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Material Type: Artigo
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Severe telomere shortening in Fanconi anemia complementation group LShah, Anjali ; George, Merin ; Dhangar, Somprakash ; Rajendran, Aruna ; Mohan, Sheila ; Vundinti, Babu RaoMolecular biology reports, 2021, Vol.48 (1), p.585-593 [Periódico revisado por pares]Dordrecht: Springer NetherlandsTexto completo disponível |
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Material Type: Artigo
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Impact of DNA repair and stability defects on cortical developmentBianchi, Federico T. ; Berto, Gaia E. ; Di Cunto, FerdinandoCellular and molecular life sciences : CMLS, 2018-11, Vol.75 (21), p.3963-3976 [Periódico revisado por pares]Cham: Springer International PublishingTexto completo disponível |
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Material Type: Artigo
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Allogeneic hematopoietic stem cell transplantation for inherited bone marrow failure syndromesDalle, Jean-Hugues ; de Latour, Régis PeffaultInternational Journal of Hematology, 2016-04, Vol.103 (4), p.373-379 [Periódico revisado por pares]Tokyo: Springer JapanTexto completo disponível |
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Material Type: Artigo
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Increased red cell distribution width in Fanconi anemia: a novel marker of stress erythropoiesisSousa, Rosa ; Gonçalves, Cristina ; Guerra, Isabel Couto ; Costa, Emília ; Fernandes, Ana ; do Bom Sucesso, Maria ; Azevedo, Joana ; Rodriguez, Alfredo ; Rius, Rocio ; Seabra, Carlos ; Ferreira, Fátima ; Ribeiro, Letícia ; Ferrão, Anabela ; Castedo, Sérgio ; Cleto, Esmeralda ; Coutinho, Jorge ; Carvalho, Félix ; Barbot, José ; Porto, BeatrizOrphanet journal of rare diseases, 2016-07, Vol.11 (1), p.102, Article 102 [Periódico revisado por pares]England: BioMed Central LtdTexto completo disponível |
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Material Type: Artigo
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Short-term follow-up of the nutritional status of children with Fanconi anemia undergoing hematopoietic stem cell transplantda Costa Heinen, Gisele Trennepohl ; Schmit, Daniella ; Campos, Denise Johnsson ; Bonfim, Carmem ; Rabito, Estela Iraci ; Vilela, Regina MariaSupportive care in cancer, 2018-03, Vol.26 (3), p.895-903 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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Material Type: Artigo
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The impact of FANCD2 deficiency on formaldehyde-induced toxicity in human lymphoblastoid cell linesRen, Xuefeng ; Ji, Zhiying ; McHale, Cliona M. ; Yuh, Jessica ; Bersonda, Jessica ; Tang, Maycky ; Smith, Martyn T. ; Zhang, LuopingArchives of toxicology, 2013-01, Vol.87 (1), p.189-196 [Periódico revisado por pares]Berlin/Heidelberg: Springer-VerlagTexto completo disponível |
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Material Type: Artigo
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Nuclease delivery: versatile functions of SLX4/FANCP in genome maintenanceKim, YonghwanMolecules and Cells, 2014, 37(8), , pp.569-574 [Periódico revisado por pares]United States: Korean Society for Molecular and Cellular BiologyTexto completo disponível |