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浏览/检索结果: 共15条，第1-10条 帮助 限定条件 专题：北京大学    第一署名单位    第一作者单位    通讯作者单位     已选(0)清除 条数/页：5101520253035404550556065707580859095100   排序方式：请选择作者升序作者降序题名升序题名降序发表日期升序发表日期降序提交时间升序提交时间降序 Cell Culture System for Analysis of Genetic Heterogeneity Within Hepatocellular Carcinomas and Response to Pharmacologic Agents 其他 2017-01-01 Gao, Qiang; Wang, Zhi-Chao; Duan, Meng; Lin, Yi-Hui; Zhou, Xue-Ya; Worthley, Daniel L.; Wang, Xiao-Ying; Niu, Gang; Xia, Yuchao; Deng, Minghua; Liu, Long-Zi; Shi, Jie-Yi; Yang, Liu-Xiao; Zhang, Shu; Ding, Zhen-Bin; Zhou, Jian; Liang, Chun-Min; Cao, Ya; Xiong, Lei; Xi, Ruibin; Shi, Yong-Yong; Fan, Jia 收藏  |  浏览/下载：35/0  |  提交时间：2017/12/04 Liver Cancer  Next-Generation Sequencing  Patient-Derived Cell Lines  Targeted Therapy  INTRATUMOR HETEROGENEITY  GENOMIC HETEROGENEITY  TUMOR HETEROGENEITY  DRUG-SENSITIVITY  SEQUENCING DATA  CANCER-CELLS  LIVER-CANCER  MUTATIONS  EVOLUTION  SORAFENIB   Genomic comparison of esophageal squamous cell carcinoma and its precursor lesions by multi-region whole-exome sequencing 期刊论文 NATURE COMMUNICATIONS, 2017 Chen, Xi-Xi; Zhong, Qian; Liu, Yang; Yan, Shu-Mei; Chen, Zhang-Hua; Jin, Shan-Zhao; Xia, Tian-Liang; Li, Ruo-Yan; Zhou, Ai-Jun; Su, Zhe; Huang, Yu-Hua; Huang, Qi-Tao; Huang, Li-Yun; Zhang, Xing; Zhao, Yan-Na; Yun, Jin-Ping; Wu, Qiu-Liang; Lin, Dong-Xin; Bai, Fan; Zeng, Mu-Sheng 收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03 CANCER EVOLUTION  MUTATIONAL PROCESSES  BARRETTS-ESOPHAGUS  CLONAL EVOLUTION  COPY NUMBER  ADENOCARCINOMA  PATTERNS  CARCINOGENESIS  CHEMOTHERAPY  SIGNATURES   Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation 期刊论文 MOLECULAR AUTISM, 2017 Wen, Zhu; Cheng, Tian-Lin; Li, Gai-Zhi; Sun, Shi-Bang; Yu, Shun-Ying; Zhang, Yi; Du, Ya-Song; Qiu, Zilong 收藏  |  浏览/下载：117/0  |  提交时间：2017/12/03 Autism spectrum disorder  Methyl-CpG-binding protein-2 (MeCP2)  Whole-exome sequencing  Neural development  CPG-BINDING PROTEIN-2  RETT-SYNDROME  DENDRITIC GROWTH  GENE  MICE  TRANSCRIPTION  MATURATION  DISORDER   MosaicHunter: accurate detection of postzygotic single-nucleotide mosaicism through next-generation sequencing of unpaired, trio, and paired samples 期刊论文 NUCLEIC ACIDS RESEARCH, 2017 Huang, August Yue; Zhang, Zheng; Ye, Adam Yongxin; Dou, Yanmei; Yan, Linlin; Yang, Xiaoxu; Zhang, Yuehua; Wei, Liping 收藏  |  浏览/下载：6/0  |  提交时间：2017/12/03 MONOZYGOTIC TWINS DISCORDANT  SOMATIC POINT MUTATIONS  HUMAN CANCER GENOMES  DE-NOVO MUTATIONS  WHOLE-GENOME  COPY NUMBER  CLONAL HEMATOPOIESIS  HUMAN TISSUES  VARIANT  IDENTIFICATION   Identification of the Genetic Cause for Childhood Disintegrative Disorder by Whole-Exome Sequencing 期刊论文 NEUROSCIENCE BULLETIN, 2017 Wen, Zhu; Cheng, Tian-Lin; Yin, Da-Zhi; Sun, Shi-Bang; Wang, Zheng; Yu, Shun-Ying; Zhang, Yi; Qiu, Zilong; Du, Ya-Song 收藏  |  浏览/下载：119/0  |  提交时间：2017/12/03 Genetic Cause  Childhood  syndrome  AUTISM SPECTRUM DISORDER  SANFILIPPO-SYNDROME  MUCOPOLYSACCHARIDOSIS  CHILDREN   SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures 期刊论文 BMC MEDICAL GENETICS, 2017 Wang, Jiaping; Gao, Hua; Bao, Xinhua; Zhang, Qingping; Li, Jiarui; Wei, Liping; Wu, Xiru; Chen, Yan; Yu, Shujie 收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03 SCN8A  Epileptic encephalopathy  Family cases  DE-NOVO MUTATIONS  SODIUM-CHANNEL  PHENOTYPIC SPECTRUM  CLINICAL SPECTRUM  SCN2A MUTATIONS  RECURRENT  NA(V)1.6  CHILDREN   iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers 期刊论文 SCIENTIFIC REPORTS, 2016 Wang, Meng; Wei, Liping 收藏  |  浏览/下载：5/0  |  提交时间：2017/12/04 AMINO-ACID SUBSTITUTIONS  UNKNOWN CLINICAL-SIGNIFICANCE  PROTEIN FUNCTION  MISSENSE VARIANTS  SEQUENCE VARIANTS  DISEASE  MUTATIONS  ASSOCIATION  CONSTRAINT  DISCOVERY   Inferring the progression of multifocal liver cancer from spatial and temporal genomic heterogeneity 其他 2016-01-01 Shi, Jie-Yi; Xing, Qingfeng; Duan, Meng; Wang, Zhi-Chao; Yang, Liu-Xiao; Zhao, Ying-Jun; Wang, Xiao-Ying; Liu, Yun; Deng, Minghua; Ding, Zhen-Bin; Ke, Ai-Wu; Zhou, Jian; Fan, Jia; Cao, Ya; Wang, Jiping; Xi, Ruibin; Gao, Qiang 收藏  |  浏览/下载：3/0  |  提交时间：2017/12/03 hepatocellular carcinoma  multifocal tumors  whole-exome sequencing  intratumor heterogeneity  FAT4  HEPATOCELLULAR-CARCINOMA RECURRENCE  INTRATUMOR HETEROGENEITY  SOMATIC MUTATIONS  GENES  IDENTIFICATION  NODULES  FAT4  BIOMARKERS  EVOLUTION   Evaluation of somatic copy number estimation tools for whole-exome sequencing data 其他 2016-01-01 Nam, Jae-Yong; Kim, Nayoung K. D.; Kim, Sang Cheol; Joung, Je-Gun; Xi, Ruibin; Lee, Semin; Park, Peter J.; Park, Woong-Yang 收藏  |  浏览/下载：4/0  |  提交时间：2017/12/03 CNV prediction  somatic alterations  the cancer genome atlas  CNV algorithms  HUMAN GENOME  HUMAN CANCERS  DISCOVERY  VARIANTS  ALGORITHMS  LANDSCAPE  DELETIONS  DEPTH   Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene 期刊论文 human molecular genetics, 2015 Elsayed Solaf M; Phillips Jennifer B; Heller Raoul; Thoenes Michaela; Elsobky Ezzat; Nürnberg Gudrun; Nürnberg Peter; Seland Saskia; Ebermann Inga; Altmüller Janine; Thiele Holger; Toliat Mohammad; K?rber Friederike; Hu Xue-Jia; Wu Yun-Dong; Zaki Maha S; Abdel-Salam Ghada; Gleeson Joseph; Boltshauser Eugen; Westerfield Monte; Bolz Hanno J 收藏  |  浏览/下载：4/0  |  提交时间：2015/11/13