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Mutation detection

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders

Gábor Kovács, Tibor Kalmár, [ ... ], Zoltán Maróti

Dihydrofolate-Reductase Mutations in Plasmodium knowlesi Appear Unrelated to Selective Drug Pressure from Putative Human-To-Human Transmission in Sabah, Malaysia

Matthew J. Grigg, Bridget E. Barber, [ ... ], Nicholas M. Anstey

Optimised Pre-Analytical Methods Improve KRAS Mutation Detection in Circulating Tumour DNA (ctDNA) from Patients with Non-Small Cell Lung Cancer (NSCLC)

James L. Sherwood, Claire Corcoran, [ ... ], Alexander Kohlmann

Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material

Wendy W. J. de Leng, Christa G. Gadellaa-van Hooijdonk, [ ... ], Martijn P. Lolkema

Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer

Douglas G. Ward, Laura Baxter, [ ... ], Richard T. Bryan

Applicability and Efficiency of NGS in Routine Diagnosis: In-Depth Performance Analysis of a Complete Workflow for CFTR Mutation Analysis

Adrien Pagin, Aurore Devos, [ ... ], Guy Lalau

Genotypic, Phenotypic and Clinical Validation of GeneXpert in Extra-Pulmonary and Pulmonary Tuberculosis in India

Urvashi B. Singh, Pooja Pandey, [ ... ], Jyotish C. Samantaray

HIV Drug Resistance Mutations (DRMs) Detected by Deep Sequencing in Virologic Failure Subjects on Therapy from Hunan Province, China

Xi Chen, Xiaobai Zou, [ ... ], Michael J. Kozal

The Mutational Landscape of Acute Promyelocytic Leukemia Reveals an Interacting Network of Co-Occurrences and Recurrent Mutations

Mariam Ibáñez, José Carbonell-Caballero, [ ... ], José Cervera

Development of Antibiotic Resistance during Simulated Treatment of Pseudomonas aeruginosa in Chemostats

Yanfang Feng, Caspar J. Hodiamont, [ ... ], Benno H. ter Kuile

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Irene Flønes, Paweł Sztromwasser, [ ... ], Charalampos Tzoulis

Prevalence of Primary HIV Drug Resistance in Thailand Detected by Short Reverse Transcriptase Genotypic Resistance Assay

Sasisopin Kiertiburanakul, Subencha Pinsai, [ ... ], Somnuek Sungkanuparph

On the Utility of Short Echo Time (TE) Single Voxel 1H–MRS in Non–Invasive Detection of 2–Hydroxyglutarate (2HG); Challenges and Potential Improvement Illustrated with Animal Models Using MRUI and LCModel

Hwon Heo, Sungjin Kim, [ ... ], Hyeonjin Kim

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