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Mutation detection

Analysis of Paired Primary-Metastatic Hormone-Receptor Positive Breast Tumors (HRPBC) Uncovers Potential Novel Drivers of Hormonal Resistance

Luis Manso, Silvana Mourón, [ ... ], Miguel Quintela-Fandino

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

Saketh Kapoor, Mohd Hussain Shah, [ ... ], Arun Kumar

Novel Mutations in the Voltage-Gated Sodium Channel of Pyrethroid-Resistant Varroa destructor Populations from the Southeastern USA

Joel González-Cabrera, Sonia Rodríguez-Vargas, [ ... ], Martin S. Williamson

Characterization of Novel Hepatitis B Virus PreS/S-Gene Mutations in a Patient with Occult Hepatitis B Virus Infection

Jianhong Chen, Yan Liu, [ ... ], Dongping Xu

Prevalence of Intrathecal Acyclovir Resistant Virus in Herpes Simplex Encephalitis Patients

Johanna G. Mitterreiter, Maarten J. Titulaer, [ ... ], Werner J. D. Ouwendijk

Nanopore-Based Target Sequence Detection

Trevor J. Morin, Tyler Shropshire, [ ... ], William B. Dunbar

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Morad Ansari, Jacqueline Rainger, [ ... ], David R. FitzPatrick

The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms

Yan Chen, Fang Fang, [ ... ], Ping Zhu

Detection of BRAF Mutations Using a Fully Automated Platform and Comparison with High Resolution Melting, Real-Time Allele Specific Amplification, Immunohistochemistry and Next Generation Sequencing Assays, for Patients with Metastatic Melanoma

Alexandre Harlé, Julia Salleron, [ ... ], Jean-Louis Merlin

Validation and Application of a Custom-Designed Targeted Next-Generation Sequencing Panel for the Diagnostic Mutational Profiling of Solid Tumors

Guy Froyen, An Broekmans, [ ... ], Brigitte Maes

Rapid and Simultaneous Detection of Major Drug Resistance Mutations in Reverse Transcriptase Gene for HIV-1 CRF01_AE, CRF07_BC and Subtype B in China Using Sequenom MassARRAY® System

Ka-Wai Cheung, Qiaoli Peng, [ ... ], Hui Wang

A Digital PCR-Based Method for Efficient and Highly Specific Screening of Genome Edited Cells

Scott D. Findlay, Krista M. Vincent, Jennifer R. Berman, Lynne-Marie Postovit

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

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