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Mutational analysis

Associations of the BRAF^V600E Mutation with Sonographic Features and Clinicopathologic Characteristics in a Large Population with Conventional Papillary Thyroid Carcinoma

Ah Young Park, Eun Ju Son, [ ... ], Hang Seok Chang

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

Luke Hebert, Paul Hillman, [ ... ], Kit Sing Au

Impact of annotation error in α-globin genes on molecular diagnosis

J. Francis Borgio

Radiomics in predicting mutation status for thyroid cancer: A preliminary study using radiomics features for predicting BRAF^V600E mutations in papillary thyroid carcinoma

Jung Hyun Yoon, Kyunghwa Han, [ ... ], Jin Young Kwak

A metamorphic testing approach for event sequences

Jing Chen, Yinglong Wang, Ying Guo, Mingyue Jiang

HaTSPiL: A modular pipeline for high-throughput sequencing data analysis

Edoardo Morandi, Matteo Cereda, [ ... ], Salvatore Oliviero

K-ras mutation analysis of residual liquid-based cytology specimens from endoscopic ultrasound-guided fine needle aspiration improves cell block diagnosis of pancreatic ductal adenocarcinoma

Yoko Sekita-Hatakeyama, Takeshi Nishikawa, [ ... ], Chiho Ohbayashi

Frequent Heterogeneous Missense Mutations of GGAP2 in Prostate Cancer: Implications for Tumor Biology, Clonality and Mutation Analysis

Yi Cai, Jianghua Wang, Chengxi Ren, Michael Ittmann

Usefulness of rapid on-site evaluation specimens from endoscopic ultrasound-guided fine-needle aspiration for cancer gene panel testing: A retrospective study

Tetsuya Ishizawa, Naohiko Makino, [ ... ], Yoshiyuki Ueno

Utility of including BRAF mutation analysis with ultrasonographic and cytological diagnoses in ultrasonography-guided fine-needle aspiration of thyroid nodules

Da Som Kim, Dong Wook Kim, [ ... ], Taewoo Kang

Mutational Analysis of Angiogenin Gene in Parkinson's Disease

Meng-Ling Chen, Ruey-Meei Wu, Chun-Hwei Tai, Chin-Hsien Lin

Whole exome sequencing study identifies candidate loss of function variants and locus heterogeneity in familial cholesteatoma

Ryan Cardenas, Peter Prinsley, [ ... ], Barbara A. Jennings

Molecular analysis of small tissue samples obtained via transbronchial lung biopsy using radial probe endobronchial ultrasound

Insu Kim, Jung Seop Eom, [ ... ], Min Ki Lee

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