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Dideoxy DNA sequencing

Quantitative and Sensitive Detection of GNAS Mutations Causing McCune-Albright Syndrome with Next Generation Sequencing

Satoshi Narumi, Kumihiro Matsuo, [ ... ], Tomonobu Hasegawa

Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria

Rajshekhar Chatterjee, Mary Hoffman, [ ... ], Sanjay Jain

Massively Parallel Sequencing of Patients with Intellectual Disability, Congenital Anomalies and/or Autism Spectrum Disorders with a Targeted Gene Panel

Maggie Brett, John McPherson, [ ... ], Ene-Choo Tan

Practical Tools to Implement Massive Parallel Pyrosequencing of PCR Products in Next Generation Molecular Diagnostics

Kim De Leeneer, Joachim De Schrijver, [ ... ], Jan Hellemans

Clinical Validation of a PCR Assay for the Detection of EGFR Mutations in Non–Small-Cell Lung Cancer: Retrospective Testing of Specimens from the EURTAC Trial

Susana Benlloch, Maria Luisa Botero, [ ... ], Miquel Taron

High Resolution Melting Analysis: A Rapid and Accurate Method to Detect CALR Mutations

Cristina Bilbao-Sieyro, Guillermo Santana, [ ... ], Maria Teresa Gomez-Casares

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy

Irene Mademont-Soler, Jesus Mates, [ ... ], Ramon Brugada

Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors

Daria C. Loconte, Valentina Grossi, [ ... ], Nicoletta Resta

Identifying and Classifying Trait Linked Polymorphisms in Non-Reference Species by Walking Coloured de Bruijn Graphs

Richard M. Leggett, Ricardo H. Ramirez-Gonzalez, [ ... ], Daniel MacLean

Development of a Melting Curve-Based Allele-Specific PCR of Apolipoprotein E (APOE) Genotyping Method for Genomic DNA, Guthrie Blood Spot, and Whole Blood

Chia-Hsiang Chen

CRISPR-induced indels and base editing using the Staphylococcus aureus Cas9 in potato

Florian Veillet, Marie-Paule Kermarrec, [ ... ], Fabien Nogué

Prevalence and extent of heteroresistance by next generation sequencing of multidrug-resistant tuberculosis

Darwin J. Operario, Alexander F. Koeppel, [ ... ], Eric R. Houpt

Multi-Center Evaluation of the Fully Automated PCR-Based Idylla^™ KRAS Mutation Assay for Rapid KRAS Mutation Status Determination on Formalin-Fixed Paraffin-Embedded Tissue of Human Colorectal Cancer

Jérôme Solassol, Julie Vendrell, [ ... ], Peter Sillekens

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