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Mutation detection

Novel Mutations in FKBP10 and PLOD2 Cause Rare Bruck Syndrome in Chinese Patients

Peiran Zhou, Yi Liu, [ ... ], Mei Li

Impact of EGFR Mutation Detection Methods on the Efficacy of Erlotinib in Patients with Advanced EGFR-Wild Type Lung Adenocarcinoma

Jeng-Sen Tseng, Chih-Liang Wang, [ ... ], Gee-Chen Chang

Two Novel Tyrosinase (TYR) Gene Mutations with Pathogenic Impact on Oculocutaneous Albinism Type 1 (OCA1)

Vadieh Ghodsinejad Kalahroudi, Behnam Kamalidehghan, [ ... ], Massoud Houshmand

Molecular Genetics of the Usher Syndrome in Lebanon: Identification of 11 Novel Protein Truncating Mutations by Whole Exome Sequencing

Ramesh Reddy, Somayyeh Fahiminiya, [ ... ], Rima Slim

Whole Genome Sequencing Reveals Novel Non-Synonymous Mutation in Ectodysplasin A (EDA) Associated with Non-Syndromic X-Linked Dominant Congenital Tooth Agenesis

Tanmoy Sarkar, Rajesh Bansal, Parimal Das

Diagnostic Value of Mutation-Specific Antibodies for Immunohistochemical Detection of Epidermal Growth Factor Receptor Mutations in Non-Small Cell Lung Cancer: A Meta-Analysis

Zi Chen, Hong-bing Liu, [ ... ], Yong Song

Systematic Production of Inactivating and Non-Inactivating Suppressor Mutations at the relA Locus That Compensate the Detrimental Effects of Complete spoT Loss and Affect Glycogen Content in Escherichia coli

Manuel Montero, Mehdi Rahimpour, [ ... ], Javier Pozueta-Romero

Unambiguous Detection of Multiple TP53 Gene Mutations in AAN-Associated Urothelial Cancer in Belgium Using Laser Capture Microdissection

Selda Aydin, Anne-France Dekairelle, [ ... ], Jean-Luc Gala

Application of Multi-Objective Optimization to Pooled Experiments of Next Generation Sequencing for Detection of Rare Mutations

Julius Žilinskas, Algirdas Lančinskas, Mario Rosario Guarracino

Prognostic Value of Epidermal Growth Factor Receptor Mutations in Resected Non-Small Cell Lung Cancer: A Systematic Review with Meta-Analysis

Zhixuan Zhang, Ting Wang, [ ... ], Xude Yin

Development, Validation and Clinical Evaluation of a Low Cost In-House HIV-1 Drug Resistance Genotyping Assay for Indian Patients

Arpan Acharya, Salil Vaniawala, [ ... ], Pratap N. Mukhopadhyaya

Analysis of POFUT1 Gene Mutation in a Chinese Family with Dowling-Degos Disease

Mingfei Chen, Yi Li, [ ... ], Furen Zhang

Detection of MPLW515L/K Mutations and Determination of Allele Frequencies with a Single-Tube PCR Assay

Hiraku Takei, Soji Morishita, [ ... ], Norio Komatsu

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