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Increased plasma levels of monocyte chemoattractant protein‐1 in patients with hepatitis B virus pre‐S2 gene deletion mutation predict a higher risk of hepatocellular carcinoma recurrence after curative surgical resectionJeng, Long‐Bin ; Li, Tsai‐Chung ; Wang, John ; Teng, Chiao‐FangCancer, 2023-09, Vol.129 (17), p.2621-2636 [Periódico revisado por pares]United States: Wiley Subscription Services, IncTexto completo disponível |
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Expanding the repertoire of counterselection markers for markerless gene deletion in the human gut bacterium Phocaeicola vulgatusNeff, André ; Lück, Rebecca ; Hövels, Marcel ; Deppenmeier, UweAnaerobe, 2023-06, Vol.81, p.102742-102742, Article 102742 [Periódico revisado por pares]England: Elsevier LtdTexto completo disponível |
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The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacyWissinger, Bernd ; Baumann, Britta ; Buena-Atienza, Elena ; Ravesh, Zeinab ; Cideciyan, Artur V ; Stingl, Katarina ; Audo, Isabelle ; Meunier, Isabelle ; Bocquet, Beatrice ; Traboulsi, Elias I ; Hardcastle, Alison J ; Gardner, Jessica C ; Michaelides, Michel ; Branham, Kari E ; Rosenberg, Thomas ; Andreasson, Sten ; Dollfus, Hélène ; Birch, David ; Vincent, Andrea L ; Martorell, Loreto ; Català Mora, Jaume ; Kellner, Ulrich ; Rüther, Klaus ; Lorenz, Birgit ; Preising, Markus N ; Manfredini, Emanuela ; Zarate, Yuri A ; Vijzelaar, Raymon ; Zrenner, Eberhart ; Jacobson, Samuel G ; Kohl, SusanneProceedings of the National Academy of Sciences - PNAS, 2022-07, Vol.119 (27), p.e2115538119 [Periódico revisado por pares]United States: National Academy of SciencesTexto completo disponível |
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Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex–associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion SyndromeGupta, Sounak ; Lohse, Christine M. ; Rowsey, Ross ; McCarthy, Michael R. ; Shen, Wei ; Herrera-Hernandez, Loren ; Boorjian, Stephen A. ; Houston Thompson, R. ; Jimenez, Rafael E. ; Leibovich, Bradley C. ; Cheville, John C.European urology, 2022-03, Vol.81 (3), p.229-233 [Periódico revisado por pares]Switzerland: Elsevier B.VTexto completo disponível |
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Plasmodium falciparum pfhrp2 and pfhrp3 Gene Deletions in Malaria-Hyperendemic Region, South SudanMolina-de la Fuente, Irene ; Benito, María José Sagrado ; Flevaud, Laurence ; Ousley, Janet ; Pasquale, Harriet Akello ; Julla, Ahmed ; Abdi, Abdirashid M ; Chol, Buai Tut ; Abubakr, Bakri ; Benito, Agustín ; Casademont, Cristian ; Nanclares, Carolina ; Berzosa, PedroEmerging infectious diseases, 2023-01, Vol.29 (1), p.154-159 [Periódico revisado por pares]United States: U.S. National Center for Infectious DiseasesTexto completo disponível |
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Reinvestigation of unidentified causative variants in FXI‐deficient patients: Focus on gene segment deletionsDe Mazancourt, Philippe ; Harroche, Annie ; Pouymayou, Katia ; Sigaud, Marianne ; Falaise, Céline ; Stieltjes, Natalie ; Castet, Sabine‐Marie ; Tardy, Brigitte ; Zawadzki, Christophe ; Goudemand, Jenny ; Dargaud, YesimHaemophilia : the official journal of the World Federation of Hemophilia, 2023-01, Vol.29 (1), p.248-255 [Periódico revisado por pares]England: Wiley Subscription Services, IncTexto completo disponível |
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Prophage-encoded gene VpaChn25_0734 amplifies ecological persistence of Vibrio parahaemolyticus CHN25Xu, Yingwei ; Yang, Lianzhi ; Wang, Yaping ; Zhu, Zhuoying ; Yan, Jizhou ; Qin, Si ; Chen, LanmingCurrent genetics, 2022-04, Vol.68 (2), p.267-287 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
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PHF21A Related Disorder: Description of a New CaseButera, Ambra ; Nicotera, Antonio Gennaro ; Di Rosa, Gabriella ; Musumeci, Sebastiano Antonino ; Vitello, Girolamo Aurelio ; Musumeci, Antonino ; Vinci, Mirella ; Gloria, Angelo ; Federico, Concetta ; Saccone, Salvatore ; Calì, FrancescoInternational journal of molecular sciences, 2022-12, Vol.23 (24), p.16130 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
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Material Type: Artigo
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The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing SyndromesSmith, Miriam J. ; Urquhart, Jill E. ; Harkness, Elaine F. ; Miles, Emma K. ; Bowers, Naomi L. ; Byers, Helen J. ; Bulman, Michael ; Gokhale, Carolyn ; Wallace, Andrew J. ; Newman, William G. ; Evans, D. GarethHuman mutation, 2016-03, Vol.37 (3), p.250-256 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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Material Type: Artigo
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A Deletion in the Chemokine Receptor 5 (CCR5) Gene Is Associated with Tickborne EncephalitisKindberg, Elin ; Mickienė, Auksė ; Ax, Cecilia ; Åkerlind, Britt ; Vene, Sirkka ; Lindquist, Lars ; Lundkvist, Åke ; Svensson, LennartThe Journal of infectious diseases, 2008-01, Vol.197 (2), p.266-269 [Periódico revisado por pares]United States: The University of Chicago PressTexto completo disponível |