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Deletion mutation

Purging Deleterious Mutations under Self Fertilization: Paradoxical Recovery in Fitness with Increasing Mutation Rate in Caenorhabditis elegans

Levi T. Morran, Aki H. Ohdera, Patrick C. Phillips

published 31 Dec 2010

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Comprehensive Approach to Analyzing Rare Genetic Variants

Thomas J. Hoffmann, Nicholas J. Marini, John S. Witte

published 03 Nov 2010

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NPM1 Deletion Is Associated with Gross Chromosomal Rearrangements in Leukemia

Roberta La Starza, Caterina Matteucci, Paolo Gorello, Lucia Brandimarte, Valentina Pierini, Barbara Crescenzi, Valeria Nofrini, Roberto Rosati, Enrico Gottardi, Giuseppe Saglio, Antonella Santucci, Laura Berchicci, Francesco Arcioni, Brunangelo Falini, Massimo Fabrizio Martelli, Constantina Sambani, Anna Aventin, Cristina Mecucci

published 21 Sep 2010

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Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3

Yong-hui Jiang, Yanzhen Pan, Li Zhu, Luis Landa, Jong Yoo, Corinne Spencer, Isabel Lorenzo, Murray Brilliant, Jeffrey Noebels, Arthur L. Beaudet

published 20 Aug 2010

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JAK2 Exon 14 Deletion in Patients with Chronic Myeloproliferative Neoplasms

Wanlong Ma, Hagop Kantarjian, Xi Zhang, Xiuqiang Wang, Zhong Zhang, Chen-Hsiung Yeh, Susan O'Brien, Francis Giles, Jean Marie Bruey, Maher Albitar

published 13 Aug 2010

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Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice

Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner, Iris Schrijver

published 26 Jul 2010

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Genome-Wide Scoring of Positive and Negative Epistasis through Decomposition of Quantitative Genetic Interaction Fitness Matrices

Ville-Pekka Eronen, Rolf O. Lindén, Anna Lindroos, Mirella Kanerva, Tero Aittokallio

published 15 Jul 2010

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Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number

Jaakko L. O. Pohjoismäki, Steffi Goffart, Robert W. Taylor, Douglas M. Turnbull, Anu Suomalainen, Howard T. Jacobs, Pekka J. Karhunen

published 03 May 2010

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Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome–Like Phenotype

Stephen C. Collins, Brad Coffee, Paul J. Benke, Elizabeth Berry-Kravis, Fred Gilbert, Ben Oostra, Dicky Halley, Michael E. Zwick, David J. Cutler, Stephen T. Warren

published 05 Mar 2010

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Optimal In Silico Target Gene Deletion through Nonlinear Programming for Genetic Engineering

Chung-Chien Hong, Mingzhou Song

published 24 Feb 2010

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MutS and MutL Are Dispensable for Maintenance of the Genomic Mutation Rate in the Halophilic Archaeon Halobacterium salinarum NRC-1

Courtney R. Busch, Jocelyne DiRuggiero

published 04 Feb 2010

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Genes Confer Similar Robustness to Environmental, Stochastic, and Genetic Perturbations in Yeast

Ben Lehner

published 03 Feb 2010

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Dystrophin Gene Mutation Location and the Risk of Cognitive Impairment in Duchenne Muscular Dystrophy

Peter J. Taylor, Grant A. Betts, Sarah Maroulis, Christian Gilissen, Robyn L. Pedersen, David R. Mowat, Heather M. Johnston, Michael F. Buckley

published 20 Jan 2010

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