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Dideoxy DNA sequencing

Optimized Multiplex Detection of 7 KRAS Mutations by Taqman Allele-Specific qPCR

Andrea Orue, Manuel Rieber

GNAI3: Another Candidate Gene to Screen in Persons with Ocular Albinism

Alejandra Young, Uma Dandekar, [ ... ], Debora B. Farber

National Prociency Testing Result of CYP2D610* Genotyping for Adjuvant Tamoxifen Therapy in China

Guigao Lin, Kuo Zhang, [ ... ], Jinming Li

Establishment of a Flexible Real-Time Polymerase Chain Reaction-Based Platform for Detecting Prevalent Deafness Mutations Associated with Variable Degree of Sensorineural Hearing Loss in Koreans

Kyu-Hee Han, Ah Reum Kim, [ ... ], Byung Yoon Choi

Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism

Li Yang, Yang Tang, [ ... ], Min Xiao

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

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

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations

Amit Tiwari, Johannes Lemke, [ ... ], Wolfgang Berger

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

Benjamin R. Lin, Derek J. Le, [ ... ], Anthony J. Aldave

Authentication of Herbal Supplements Using Next-Generation Sequencing

Natalia V. Ivanova, Maria L. Kuzmina, [ ... ], Evgeny V. Zakharov

Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac Death

Michael V. Zaragoza, Lianna Fung, [ ... ], Anna Grosberg

Whole Exome Sequencing Reveals Homozygous Mutations in RAI1, OTOF, and SLC26A4 Genes Associated with Nonsyndromic Hearing Loss in Altaian Families (South Siberia)

Alexander Y. Сhurbanov, Tatiana M. Karafet, [ ... ], Olga L. Posukh

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

Comparison of Xpert MTB/RIF Assay and GenoType MTBDRplus DNA Probes for Detection of Mutations Associated with Rifampicin Resistance in Mycobacterium tuberculosis

Arfatur Rahman, Mahfuza Sahrin, [ ... ], Sayera Banu

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