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Mutation

Exome Sequencing Reveals Novel and Recurrent Mutations with Clinical Significance in Inherited Retinal Dystrophies

María González-del Pozo, Cristina Méndez-Vidal, Nereida Bravo-Gil, Alicia Vela-Boza, Joaquin Dopazo, Salud Borrego, Guillermo Antiñolo

published 29 Dec 2014

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Mycobacterium marinum MgtC Plays a Role in Phagocytosis but is Dispensable for Intracellular Multiplication

Claudine Belon, Laïla Gannoun-Zaki, Georges Lutfalla, Laurent Kremer, Anne-Béatrice Blanc-Potard

published 29 Dec 2014

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A Cyclic Peptidic Serine Protease Inhibitor: Increasing Affinity by Increasing Peptide Flexibility

Baoyu Zhao, Peng Xu, Longguang Jiang, Berit Paaske, Tobias Kromann-Hansen, Jan K. Jensen, Hans Peter Sørensen, Zhuo Liu, Jakob T. Nielsen, Anni Christensen, Masood Hosseini, Kasper K. Sørensen, Niels Christian Nielsen, Knud J. Jensen, Mingdong Huang, Peter A. Andreasen

published 29 Dec 2014

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Whole Genome Sequence Analysis Suggests Intratumoral Heterogeneity in Dissemination of Breast Cancer to Lymph Nodes

Kevin Blighe, Laura Kenny, Naina Patel, David S. Guttery, Karen Page, Julian H. Gronau, Cyrus Golshani, Justin Stebbing, R. Charles Coombes, Jacqueline A. Shaw

published 29 Dec 2014

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iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice

Yang Leilei, Liu Bing, Li Yang, Wang Shaoxia, Xu Yuan, Wang Dongping, Ye Huahu, Shang Shichen, Zhang Guangzhou, Peng Ruiyun, Zeng Lin, Li Wenlong

published 29 Dec 2014

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The Evolution of Heterogeneities Altered by Mutational Robustness, Gene Expression Noise and Bottlenecks in Gene Regulatory Networks

Zhihua Zhang

published 26 Dec 2014

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The Mouse MC13 Mutant Is a Novel ENU Mutation in Collagen Type II, Alpha 1

Megan Cionni, Chelsea Menke, Rolf W. Stottmann

published 26 Dec 2014

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An Integrative Analysis of PIK3CA Mutation, PTEN, and INPP4B Expression in Terms of Trastuzumab Efficacy in HER2-Positive Breast Cancer

Aiko Sueta, Yutaka Yamamoto, Mutsuko Yamamoto-Ibusuki, Mitsuhiro Hayashi, Takashi Takeshita, Satoko Yamamoto, Hirotaka Iwase

published 26 Dec 2014

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Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome

Jiang Lin, Jing Yang, Xiang-mei Wen, Lei Yang, Zhao-qun Deng, Zhen Qian, Ji-chun Ma, Hong Guo, Ying-ying Zhang, Wei Qian, Jun Qian

published 26 Dec 2014

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Two Desmin Gene Mutations Associated with Myofibrillar Myopathies in Polish Families

Jakub Piotr Fichna, Justyna Karolczak, Anna Potulska-Chromik, Przemyslaw Miszta, Mariusz Berdynski, Agata Sikorska, Slawomir Filipek, Maria Jolanta Redowicz, Anna Kaminska, Cezary Zekanowski

published 26 Dec 2014

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Characterization of the MeCP2^R168X Knockin Mouse Model for Rett Syndrome

Eike Wegener, Cornelia Brendel, Andre Fischer, Swen Hülsmann, Jutta Gärtner, Peter Huppke

published 26 Dec 2014

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Characterization of G6PD Genotypes and Phenotypes on the Northwestern Thailand-Myanmar Border

Germana Bancone, Cindy S. Chu, Raweewan Somsakchaicharoen, Nongnud Chowwiwat, Daniel M. Parker, Prakaykaew Charunwatthana, Nicholas J. White, François H. Nosten

published 23 Dec 2014

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Glucocerebrosidase Gene Mutations Associated with Parkinson's Disease: A Meta-Analysis in a Chinese population

Jia Chen, Wei Li, Tao Zhang, Yan-jiang Wang, Xiao-jiang Jiang, Zhi-qiang Xu

published 23 Dec 2014

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