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Point mutation

Recurrent Chromosomal Copy Number Alterations in Sporadic Chordomas

Long Phi Le, G. Petur Nielsen, Andrew Eric Rosenberg, Dafydd Thomas, Julie M. Batten, Vikram Deshpande, Joseph Schwab, Zhenfeng Duan, Ramnik J. Xavier, Francis J. Hornicek, A. John Iafrate

published 13 May 2011

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Benchmarking of Mutation Diagnostics in Clinical Lung Cancer Specimens

Silvia Querings, Janine Altmüller, Sascha Ansén, Thomas Zander, Danila Seidel, Franziska Gabler, Martin Peifer, Eva Markert, Kathryn Stemshorn, Bernd Timmermann, Beate Saal, Stefan Klose, Karen Ernestus, Matthias Scheffler, Walburga Engel-Riedel, Erich Stoelben, Elisabeth Brambilla, Jürgen Wolf, Peter Nürnberg, Roman K. Thomas

published 05 May 2011

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Dynamic Diagnosis of Familial Prion Diseases Supports the β2-α2 Loop as a Universal Interference Target

Massimiliano Meli, Maria Gasset, Giorgio Colombo

published 28 Apr 2011

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Homologous Recombination Is Stimulated by a Decrease in dUTPase in Arabidopsis

Emeline Dubois, Dolores Córdoba-Cañero, Sophie Massot, Nicolas Siaud, Bertrand Gakière, Séverine Domenichini, Florence Guérard, Teresa Roldan-Arjona, Marie-Pascale Doutriaux

published 26 Apr 2011

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Analysis of Jak2 Catalytic Function by Peptide Microarrays: The Role of the JH2 Domain and V617F Mutation

Arturo Sanz, Daniela Ungureanu, Tuija Pekkala, Rob Ruijtenbeek, Ivo P. Touw, Riet Hilhorst, Olli Silvennoinen

published 18 Apr 2011

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A Systematic Study of Gene Mutations in Urothelial Carcinoma; Inactivating Mutations in TSC2 and PIK3R1

Gottfrid Sjödahl, Martin Lauss, Sigurdur Gudjonsson, Fredrik Liedberg, Christer Halldén, Gunilla Chebil, Wiking Månsson, Mattias Höglund, David Lindgren

published 14 Apr 2011

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Separase Phosphosite Mutation Leads to Genome Instability and Primordial Germ Cell Depletion during Oogenesis

Juan Xu, Meizhi Wang, Xinxing Gao, Bian Hu, Yinan Du, Jiankui Zhou, Xuemei Tian, Xingxu Huang

published 11 Apr 2011

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Splice Site Mutations in the ATP7A Gene

Tina Skjørringe, Zeynep Tümer, Lisbeth Birk Møller

published 11 Apr 2011

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Trafficking Defect and Proteasomal Degradation Contribute to the Phenotype of a Novel KCNH2 Long QT Syndrome Mutation

Anton Mihic, Vijay S. Chauhan, Xiaodong Gao, Gavin Y. Oudit, Robert G. Tsushima

published 31 Mar 2011

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Dominant Cone-Rod Dystrophy: A Mouse Model Generated by Gene Targeting of the GCAP1/Guca1a Gene

Prateek K. Buch, Marija Mihelec, Phillippa Cottrill, Susan E. Wilkie, Rachael A. Pearson, Yanai Duran, Emma L. West, Michel Michaelides, Robin R. Ali, David M. Hunt

published 28 Mar 2011

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Point Mutations in Helicobacter pylori's fur Regulatory Gene that Alter Resistance to Metronidazole, a Prodrug Activated by Chemical Reduction

Sung Sook Choi, Peter T. Chivers, Douglas E. Berg

published 25 Mar 2011

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HIV Quasispecies Dynamics during Pro-Active Treatment Switching: Impact on Multi-Drug Resistance and Resistance Archiving in Latent Reservoirs

Max von Kleist, Stephan Menz, Hartmut Stocker, Keikawus Arasteh, Christof Schütte, Wilhelm Huisinga

published 24 Mar 2011

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Structure-Function Study of Mammalian Munc18-1 and C. elegans UNC-18 Implicates Domain 3b in the Regulation of Exocytosis

Margaret E. Graham, Gerald R. Prescott, James R. Johnson, Mathew Jones, Alice Walmesley, Lee P. Haynes, Alan Morgan, Robert D. Burgoyne, Jeff W. Barclay

published 21 Mar 2011

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