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Mutation detection

Time-to-Detection of Inducible Macrolide Resistance in Mycobacterium abscessus Subspecies and Its Association with the Erm(41) Sequevar

Sara Christianson, William Grierson, Daniel Kein, Andrea D. Tyler, Joyce Wolfe, Meenu K. Sharma

published 04 Aug 2016

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High Resistance to Azithromycin in Clinical Samples from Patients with Sexually Transmitted Diseases in Guangxi Zhuang Autonomous Region, China

Bangyong Zhu, Jin Bu, Wei Li, Jie Zhang, Geng Huang, Juan Cao, Zhongshu Tang, Quan Gan, Pingjiang Wei

published 28 Jul 2016

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Comparative Methods to Improve the Detection of BRAF V600 Mutations in Highly Pigmented Melanoma Specimens

Eric Frouin, Thierry Maudelonde, Romain Senal, Marion Larrieux, Valérie Costes, Sylvain Godreuil, Julie A. Vendrell, Jérôme Solassol

published 28 Jul 2016

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A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Cristina Villanueva-Mendoza, Vianney Cortés-González, Muhammad Imran Khan, Anneke I. den Hollander

published 27 Jul 2016

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Application of Circulating Tumor DNA as a Non-Invasive Tool for Monitoring the Progression of Colorectal Cancer

Jiaolin Zhou, Lianpeng Chang, Yanfang Guan, Ling Yang, Xuefeng Xia, Liqiang Cui, Xin Yi, Guole Lin

published 26 Jul 2016

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Rapid Screening of MDR-TB in Cases of Extra Pulmonary Tuberculosis Using Geno Type MTBDRplus

Richa Kumari, Rajneesh Tripathi, Alok Prakash Pandey, Tuhina Banerjee, Pallavi Sinha, Shampa Anupurba

published 21 Jul 2016

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Non-Invasive Prenatal Diagnosis of Lethal Skeletal Dysplasia by Targeted Capture Sequencing of Maternal Plasma

Shan Dan, Yuan Yuan, Yaoshen Wang, Chao Chen, Changxin Gao, Song Yu, Yan Liu, Wei Song, Asan, Hongmei Zhu, Ling Yang, Hongmei Deng, Yue Su, Xin Yi

published 19 Jul 2016

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Immunohistochemical Determination of p53 Protein Overexpression for Predicting p53 Gene Mutations in Hepatocellular Carcinoma: A Meta-Analysis

Jiangbo Liu, Wei Li, Miao Deng, Dechun Liu, Qingyong Ma, Xiaoshan Feng

published 18 Jul 2016

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Multiplex Detection of Rare Mutations by Picoliter Droplet Based Digital PCR: Sensitivity and Specificity Considerations

Eleonora Zonta, Fanny Garlan, Nicolas Pécuchet, Karla Perez-Toralla, Ouriel Caen, Coren Milbury, Audrey Didelot, Elizabeth Fabre, Hélène Blons, Pierre Laurent-Puig, Valérie Taly

published 14 Jul 2016

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Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma

Shazia Micheal, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Aftab Iqbal, Muhammad Imran Khan, Anneke I. den Hollander

published 13 Jul 2016

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A Novel Missense Mutation of GATA4 in a Chinese Family with Congenital Heart Disease

Xiaoqing Zhang, Jian Wang, Bo Wang, Sun Chen, Qihua Fu, Kun Sun

published 08 Jul 2016

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Epidermal Growth Factor Receptor Mutation and Anaplastic Lymphoma Kinase Gene Fusion: Detection in Malignant Pleural Effusion by RNA or PNA Analysis

Yi-Lin Chen, Chung-Ta Lee, Cheng-Chan Lu, Shu-Ching Yang, Wan-Li Chen, Yang-Cheng Lee, Chung-Hsien Yang, Shu-Ling Peng, Wu-Chou Su, Nan-Haw Chow, Chung-Liang Ho

published 28 Jun 2016

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Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations

Christos Chassanidis, Effrossyni Boutou, Ersi Voskaridou, Angeliki Balassopoulou

published 28 Jun 2016

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