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Mutation

JAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome

Liting Li, Jibin Dong, Xiaohong Wang, Hongmei Guo, Huijun Wang, Jing Zhao, Yiling Qiu, Kuerbanjiang Abuduxikuer, Jianshe Wang

published 15 Jun 2015

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Validation of an Ion Torrent Sequencing Platform for the Detection of Gene Mutations in Biopsy Specimens from Patients with Non-Small-Cell Lung Cancer

Shiro Fujita, Katsuhiro Masago, Jumpei Takeshita, Chiyuki Okuda, Kyoko Otsuka, Akito Hata, Reiko Kaji, Nobuyuki Katakami, Yukio Hirata

published 15 Jun 2015

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Defective Proteasome Delivery of Polyubiquitinated Proteins by Ubiquilin-2 Proteins Containing ALS Mutations

Lydia Chang, Mervyn J. Monteiro

published 15 Jun 2015

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Combined Targeted DNA Sequencing in Non-Small Cell Lung Cancer (NSCLC) Using UNCseq and NGScopy, and RNA Sequencing Using UNCqeR for the Detection of Genetic Aberrations in NSCLC

Xiaobei Zhao, Anyou Wang, Vonn Walter, Nirali M. Patel, David A. Eberhard, Michele C. Hayward, Ashley H. Salazar, Heejoon Jo, Matthew G. Soloway, Matthew D. Wilkerson, Joel S. Parker, Xiaoying Yin, Guosheng Zhang, Marni B. Siegel, Gary B. Rosson, H. Shelton Earp III, Norman E. Sharpless, Margaret L. Gulley, Karen E. Weck, D. Neil Hayes, Stergios J. Moschos

published 15 Jun 2015

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Clinical Implications of Rabphillin-3A-Like Gene Alterations in Breast Cancer

Balananda-Dhurjati Kumar Putcha, Xu Jia, Venkat Rao Katkoori, Chura Salih, Chandrakumar Shanmugam, Trafina Jadhav, Liselle C. Bovell, Michael P. Behring, Tom Callens, Ludwine Messiaen, Sejong Bae, William E. Grizzle, Karan P. Singh, Upender Manne

published 12 Jun 2015

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Dynamics of the Peripheral Membrane Protein P2 from Human Myelin Measured by Neutron Scattering—A Comparison between Wild-Type Protein and a Hinge Mutant

Saara Laulumaa, Tuomo Nieminen, Mari Lehtimäki, Shweta Aggarwal, Mikael Simons, Michael M. Koza, Ilpo Vattulainen, Petri Kursula, Francesca Natali

published 11 Jun 2015

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Expected Shannon Entropy and Shannon Differentiation between Subpopulations for Neutral Genes under the Finite Island Model

Anne Chao, Lou Jost, T. C. Hsieh, K. H. Ma, William B. Sherwin, Lee Ann Rollins

published 11 Jun 2015

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Sequence Polymorphism of Cytochrome b Gene in Theileria annulata Tunisian Isolates and Its Association with Buparvaquone Treatment Failure

Moez Mhadhbi, Melek Chaouch, Kaouthar Ajroud, Mohamed Aziz Darghouth, Souha BenAbderrazak

published 10 Jun 2015

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The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals

Shasha Huang, Bangqing Huang, Guojian Wang, Yongyi Yuan, Pu Dai

published 10 Jun 2015

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A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet

published 10 Jun 2015

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Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population

So Young Kim, Ah Reum Kim, Kyu Hee Han, Min Young Kim, Eun-Hee Jeon, Ja-Won Koo, Seung Ha Oh, Byung Yoon Choi

published 10 Jun 2015

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Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome

Abram Bunya Kamiza, Ling-Ling Hsieh, Reiping Tang, Huei-Tzu Chien, Chih-Hsiung Lai, Li-Ling Chiu, Tsai-Ping Lo, Kuan-Yi Hung, Chun-Yi Wang, Jeng-Fu You, Chao A. Hsiung, Chih-Ching Yeh

published 08 Jun 2015

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Comprehensive Analysis of Disease-Related Genes in Chronic Lymphocytic Leukemia by Multiplex PCR-Based Next Generation Sequencing

Claudia Vollbrecht, Fabian Dominik Mairinger, Ulrike Koitzsch, Martin Peifer, Katharina Koenig, Lukas Carl Heukamp, Giuliano Crispatzu, Laura Wilden, Karl-Anton Kreuzer, Michael Hallek, Margarete Odenthal, Carmen Diana Herling, Reinhard Buettner

published 08 Jun 2015

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