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Deletion mutation

Identification of Sequence Variants in Genetic Disease-Causing Genes Using Targeted Next-Generation Sequencing

Xiaoming Wei, Xiangchun Ju, Xin Yi, Qian Zhu, Ning Qu, Tengfei Liu, Yang Chen, Hui Jiang, Guanghui Yang, Ruan Zhen, Zhangzhang Lan, Ming Qi, Jinming Wang, Yi Yang, Yuxing Chu, Xiaoyan Li, Yanfang Guang, Jian Huang

published 21 Dec 2011

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Collagen XXVII Organises the Pericellular Matrix in the Growth Plate

Darren A. Plumb, Laila Ferrara, Tanja Torbica, Lynnette Knowles, Aleksandr Mironov Jr., Karl E. Kadler, Michael D. Briggs, Raymond P. Boot-Handford

published 19 Dec 2011

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The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan

Kon-Ping Lin, Bing-Wen Soong, Chih-Chao Yang, Li-Wen Huang, Ming-Hong Chang, I-Hui Lee, Antony Antonellis, Yi-Chung Lee

published 19 Dec 2011

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Reduced Selective Constraint in Endosymbionts: Elevation in Radical Amino Acid Replacements Occurs Genome-Wide

Jennifer J. Wernegreen

published 14 Dec 2011

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Neighborhood Properties Are Important Determinants of Temperature Sensitive Mutations

Svetlana Lockwood, Bala Krishnamoorthy, Ping Ye

published 02 Dec 2011

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Mutation Screening of Multiple Genes in Spanish Patients with Autosomal Recessive Retinitis Pigmentosa by Targeted Resequencing

María González-del Pozo, Salud Borrego, Isabel Barragán, Juan I. Pieras, Javier Santoyo, Nerea Matamala, Belén Naranjo, Joaquín Dopazo, Guillermo Antiñolo

published 02 Dec 2011

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The Influence of Deleterious Mutations on Adaptation in Asexual Populations

Xiaoqian Jiang, Zhao Xu, Jingjing Li, Youyi Shi, Wenwu Wu, Shiheng Tao

published 14 Nov 2011

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FACT, the Bur Kinase Pathway, and the Histone Co-Repressor HirC Have Overlapping Nucleosome-Related Roles in Yeast Transcription Elongation

Jennifer R. Stevens, Allyson F. O'Donnell, Troy E. Perry, Jeremy J. R. Benjamin, Christine A. Barnes, Gerald C. Johnston, Richard A. Singer

published 12 Oct 2011

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HIVsirDB: A Database of HIV Inhibiting siRNAs

Atul Tyagi, Firoz Ahmed, Nishant Thakur, Arun Sharma, Gajendra P. S. Raghava, Manoj Kumar

published 11 Oct 2011

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Dynamics of a Sex-Linked Deleterious Mutation in Populations Subject to Sex Reversal

Markku Karhunen

published 10 Oct 2011

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Isogenic Pairs of Wild Type and Mutant Induced Pluripotent Stem Cell (iPSC) Lines from Rett Syndrome Patients as In Vitro Disease Model

Gene Ananiev, Emily Cunningham Williams, Hongda Li, Qiang Chang

published 26 Sep 2011

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Screening for EGFR and KRAS Mutations in Endobronchial Ultrasound Derived Transbronchial Needle Aspirates in Non-Small Cell Lung Cancer Using COLD-PCR

George Santis, Roger Angell, Guillermina Nickless, Alison Quinn, Amanda Herbert, Paul Cane, James Spicer, Ronan Breen, Emma McLean, Khalid Tobal

published 19 Sep 2011

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Angiomyolipoma Have Common Mutations in TSC2 but No Other Common Genetic Events

Wei Qin, Vineeta Bajaj, Izabela Malinowska, Xin Lu, Laura MacConaill, Chin-Lee Wu, David J. Kwiatkowski

published 16 Sep 2011

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