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Mutation detection

Simultaneous Detection of Both Single Nucleotide Variations and Copy Number Alterations by Next-Generation Sequencing in Gorlin Syndrome

Kei-ichi Morita, Takuya Naruto, [ ... ], Hiroyuki Harada

Analysis of PIK3CA Mutations and Activation Pathways in Triple Negative Breast Cancer

Paolo Cossu-Rocca, Sandra Orrù, [ ... ], Maria Rosaria De Miglio

Hereditary Angioedema Due to C1 Inhibitor Deficiency in Serbia: Two Novel Mutations and Evidence of Genotype-Phenotype Association

Slađana Andrejević, Peter Korošec, [ ... ], Matija Rijavec

Concurrent Mutations in ATM and Genes Associated with Common γ Chain Signaling in Peripheral T Cell Lymphoma

Haley M. Simpson, Rashid Z. Khan, [ ... ], Arnob Banerjee

Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods

Ji-Hye Park, Margaux Sevin, [ ... ], François Girodon

Dependable and Efficient Clinical Molecular Diagnosis of Chinese RP Patient with Targeted Exon Sequencing

Liping Yang, Hui Cui, [ ... ], Zhizhong Ma

Comparison of 454 Ultra-Deep Sequencing and Allele-Specific Real-Time PCR with Regard to the Detection of Emerging Drug-Resistant Minor HIV-1 Variants after Antiretroviral Prophylaxis for Vertical Transmission

Andrea Hauser, Claudia Kuecherer, [ ... ], Karolin Meixenberger

Significance of PIK3CA Mutations in Patients with Early Breast Cancer Treated with Adjuvant Chemotherapy: A Hellenic Cooperative Oncology Group (HeCOG) Study

George Papaxoinis, Vassiliki Kotoula, [ ... ], George Fountzilas

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Zhao Chen, Wei Ye, [ ... ], Hong Jiang

Antimicrobial Resistance and Molecular Investigation of H₂S-Negative Salmonella enterica subsp. enterica serovar Choleraesuis Isolates in China

Jing Xie, Shengjie Yi, [ ... ], Hongbin Song

Novel Vitamin D Receptor Mutations in Hereditary Vitamin D Resistant Rickets in Chinese

Lee-Moay Lim, Xuan Zhao, [ ... ], Hung-Chun Chen

Efficient Genotyping of KRAS Mutant Non-Small Cell Lung Cancer Using a Multiplexed Droplet Digital PCR Approach

Alexandra Pender, Isaac Garcia-Murillas, [ ... ], Julian Downward

Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms

Haixiu Guo, Xiuhua Chen, [ ... ], Hongwei Wang

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