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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, [ ... ], Meenu K. Sharma

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

Bangyong Zhu, Jin Bu, [ ... ], Pingjiang Wei

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

Eric Frouin, Thierry Maudelonde, [ ... ], Jérôme Solassol

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

Shazia Micheal, Sorath Noorani Siddiqui, [ ... ], Anneke I. den Hollander

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

Jiaolin Zhou, Lianpeng Chang, [ ... ], Guole Lin

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

Richa Kumari, Rajneesh Tripathi, [ ... ], Shampa Anupurba

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

Shan Dan, Yuan Yuan, [ ... ], Xin Yi

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

Jiangbo Liu, Wei Li, [ ... ], Xiaoshan Feng

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

Eleonora Zonta, Fanny Garlan, [ ... ], Valérie Taly

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

Shazia Micheal, Sorath Noorani Siddiqui, [ ... ], Anneke I. den Hollander

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

Xiaoqing Zhang, Jian Wang, [ ... ], Kun Sun

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, [ ... ], Chung-Liang Ho

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

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