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Mutation

Unambiguous Detection of Multiple TP53 Gene Mutations in AAN-Associated Urothelial Cancer in Belgium Using Laser Capture Microdissection

Selda Aydin, Anne-France Dekairelle, Jérôme Ambroise, Jean-François Durant, Michel Heusterspreute, Yves Guiot, Jean-Pierre Cosyns, Jean-Luc Gala

published 03 Sep 2014

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Molecular Evidence of Increased Resistance to Anti-Folate Drugs in Plasmodium falciparum in North-East India: A Signal for Potential Failure of Artemisinin Plus Sulphadoxine-Pyrimethamine Combination Therapy

Pradyumna Kishore Mohapatra, Devojit Kumar Sarma, Anil Prakash, Khukumoni Bora, Md. Atique Ahmed, Bibhas Sarma, Basanta Kumar Goswami, Dibya Ranjan Bhattacharyya, Jagadish Mahanta

published 03 Sep 2014

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RTCGAToolbox: A New Tool for Exporting TCGA Firehose Data

Mehmet Kemal Samur

published 02 Sep 2014

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Genetic Diagnosis of Two Dopa-Responsive Dystonia Families by Exome Sequencing

Zhan-fang Sun, Yu-han Zhang, Ji-feng Guo, Qi-ying Sun, Jun-pu Mei, Han-lin Zhou, Li-ping Guan, Jin-yong Tian, Zheng-mao Hu, Jia-da Li, Kun Xia, Xin-xiang Yan, Bei-sha Tang

published 02 Sep 2014

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Differential Binding of Tenofovir and Adefovir to Reverse Transcriptase of Hepatitis B Virus

Formijn J. van Hemert, Ben Berkhout, Hans L. Zaaijer

published 02 Sep 2014

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The Small GTP-Binding Proteins AgRho2 and AgRho5 Regulate Tip-Branching, Maintenance of the Growth Axis and Actin-Ring-Integrity in the Filamentous Fungus Ashbya gossypii

Doris Nordmann, Manuela Lickfeld, Verena Warnsmann, Johanna Wiechert, Arne Jendretzki, Hans-Peter Schmitz

published 29 Aug 2014

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Chemical Interference with Iron Transport Systems to Suppress Bacterial Growth of Streptococcus pneumoniae

Xiao-Yan Yang, Bin Sun, Liang Zhang, Nan Li, Junlong Han, Jing Zhang, Xuesong Sun, Qing-Yu He

published 29 Aug 2014

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Dissecting the Functional Role of the N-Terminal Domain of the Human Small Heat Shock Protein HSPB6

Michelle Heirbaut, Steven Beelen, Sergei V. Strelkov, Stephen D. Weeks

published 26 Aug 2014

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Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Mingfei Chen, Yi Li, Hong Liu, Xi'an Fu, Yiongxiang Yu, Gongqi Yu, Chuan Wang, Fangfang Bao, Herty Liany, Zhenzhen Wang, Zhongxiang Shi, Dizhan Zhang, Guizhi Zhou, Jianjun Liu, Furen Zhang

published 26 Aug 2014

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A Novel marRAB Operon Contributes to the Rifampicin Resistance in Mycobacterium smegmatis

Haiwei Zhang, Long Gao, Jiaoling Zhang, Weihui Li, Min Yang, Hua Zhang, Chunhui Gao, Zheng-Guo He

published 25 Aug 2014

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Elevated Levels of FMR1 mRNA in Granulosa Cells Are Associated with Low Ovarian Reserve in FMR1 Premutation Carriers

Shai E. Elizur, Oshrit Lebovitz, Sanaz Derech-Haim, Olga Dratviman-Storobinsky, Baruch Feldman, Jehoshua Dor, Raoul Orvieto, Yoram Cohen

published 25 Aug 2014

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In Silico Identification of New Putative Pathogenic Variants in the Neu1 Sialidase Gene Affecting Enzyme Function and Subcellular Localization

Dario Bonardi, Viola Ravasio, Giuseppe Borsani, Alessandra d'Azzo, Roberto Bresciani, Eugenio Monti, Edoardo Giacopuzzi

published 25 Aug 2014

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Intermediate CAG Repeat Expansion in the ATXN2 Gene Is a Unique Genetic Risk Factor for ALS−A Systematic Review and Meta-Analysis of Observational Studies

Ming-Dong Wang, James Gomes, Neil R. Cashman, Julian Little, Daniel Krewski

published 22 Aug 2014

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