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Deletion mutation

Hcn1 Is a Tremorgenic Genetic Component in a Rat Model of Essential Tremor

Yukihiro Ohno, Saki Shimizu, Ayaka Tatara, Takuji Imaoku, Takahiro Ishii, Masashi Sasa, Tadao Serikawa, Takashi Kuramoto

published 13 May 2015

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Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing

Soo Min Han, Byungjin Hwang, Tae-gun Park, Do-Il Kim, Moo-Yong Rhee, Byoung-Kwon Lee, Young Keun Ahn, Byung Ryul Cho, Jeongtaek Woo, Seung-Ho Hur, Jin-Ok Jeong, Sungha Park, Yangsoo Jang, Min Goo Lee, Duhee Bang, Ji Hyun Lee, Sang-Hak Lee

published 11 May 2015

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Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models

Kirsi Penttinen, Heikki Swan, Sari Vanninen, Jere Paavola, Annukka M. Lahtinen, Kimmo Kontula, Katriina Aalto-Setälä

published 08 May 2015

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Impact of Smoking and Brain Metastasis on Outcomes of Advanced EGFR Mutation Lung Adenocarcinoma Patients Treated with First Line Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors

Amit Jain, Cindy Lim, Eugene MingJin Gan, David Zhihao Ng, Quan Sing Ng, Mei Kim Ang, Angela Takano, Kian Sing Chan, Wu Meng Tan, Ravindran Kanesvaran, Chee Keong Toh, Chian Min Loo, Anne Ann Ling Hsu, Anantham Devanand, Chong Hee Lim, Heng Nung Koong, Tina Koh, Kam Weng Fong, Swee Peng Yap, Su Woon Kim, Balram Chowbay, Lynette Oon, Kiat Hon Lim, Wan Teck Lim, Eng Huat Tan, Daniel Shao Weng Tan

published 08 May 2015

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Translational Activation of Oskar mRNA: Reevaluation of the Role and Importance of a 5' Regulatory Element

Matt Kanke, Paul M. Macdonald

published 04 May 2015

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Identification of a Comprehensive Spectrum of Genetic Factors for Hereditary Breast Cancer in a Chinese Population by Next-Generation Sequencing

Xiaochen Yang, Jiong Wu, Jingsong Lu, Guangyu Liu, Genhong Di, Canming Chen, Yifeng Hou, Menghong Sun, Wentao Yang, Xiaojing Xu, Ying Zhao, Xin Hu, Daqiang Li, Zhigang Cao, Xiaoyan Zhou, Xiaoyan Huang, Zhebin Liu, Huan Chen, Yanzi Gu, Yayun Chi, Xia Yan, Qixia Han, Zhenzhou Shen, Zhimin Shao, Zhen Hu

published 30 Apr 2015

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Arrhythmogenic Biophysical Phenotype for SCN5A Mutation S1787N Depends upon Splice Variant Background and Intracellular Acidosis

Rou-Mu Hu, Bi-Hua Tan, David J. Tester, Chunhua Song, Yang He, Sinisa Dovat, Blaise Z. Peterson, Michael J. Ackerman, Jonathan C. Makielski

published 29 Apr 2015

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A Genomic Safe Haven for Mutant Complementation in Cryptococcus neoformans

Samantha D. M. Arras, Jessica L. Chitty, Kirsten L. Blake, Benjamin L. Schulz, James A. Fraser

published 09 Apr 2015

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Post-PKS Tailoring Steps of a Disaccharide-Containing Polyene NPP in Pseudonocardia autotrophica

Hye-Jin Kim, Min-Kyung Kim, Mi-Jin Lee, Hyung-Jin Won, Si-Sun Choi, Eung-Soo Kim

published 07 Apr 2015

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Lower Mutation Frequency of BCP/Precore Regions in e Antigen-Negative Chronic HBV-Infected Children instead of Adults Patients

Yong Huang, Haijun Deng, Xuefeng Shan, Xuyang Gong, Xiaosong Li, Zen Tu, Quanxin Long, Ailong Huang

published 30 Mar 2015

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Exome Analysis Reveals Differentially Mutated Gene Signatures of Stage, Grade and Subtype in Breast Cancers

You Li, Xiaosheng Wang, Suleyman Vural, Nitish K. Mishra, Kenneth H. Cowan, Chittibabu Guda

published 24 Mar 2015

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The Human Cytomegalovirus UL133-138 Gene Locus Attenuates the Lytic Viral Cycle in Fibroblasts

Nirmal Dutta, Philip Lashmit, Jinxiang Yuan, Jeffery Meier, Mark F. Stinski

published 23 Mar 2015

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Prediction of the Damage-Associated Non-Synonymous Single Nucleotide Polymorphisms in the Human MC1R Gene

Diego Hepp, Gislene Lopes Gonçalves, Thales Renato Ochotorena de Freitas

published 20 Mar 2015

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