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浏览/检索结果: 共16条，第1-10条 帮助 限定条件 专题：中国医学科学院 北京协和医学院    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 Steroid metabolism gene variants and their genotype-phenotype correlations in Chinese early-onset hypertension patients 期刊论文 2019, 卷号: 42, 期号: 10, 页码: 1536-1543 作者:  Qin Fang;  Liu Kai;  Zhang Ce;  Sun Xiaolu;  Zhang Yang 收藏  |  浏览/下载：52/0  |  提交时间：2020/01/03 congenital adrenal hyperplasia  genotype–phenotype correlation  hypertension  rare variant  steroid metabolism   Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease 期刊论文 2019 作者:  Li Jiacheng;  Lu Chaoxia;  Wu Wei;  Liu Yaping;  Wang Rongrong 收藏  |  浏览/下载：19/0  |  提交时间：2020/01/03 FBN1 mutation  Marfan syndrome  genotype-phenotype correlations  next-generation sequencing   CaMKII-δ9 promotes cardiomyopathy through disrupting UBE2T-dependent DNA repair 期刊论文 2019, 卷号: 21, 期号: 9, 页码: 1152-1163 作者:  Zhang Mao;  Gao Hua;  Liu Dairu;  Zhong Xiaoming;  Shi Xiaolu 收藏  |  浏览/下载：53/0  |  提交时间：2020/01/03 Co-existence of t(9;22) and t(8;21) in primary blast phase of chronic myelogenous leukemia: clinical experience and literature review 期刊论文 2019, 卷号: 12, 期号: 5, 页码: 1811-1815 作者:  Zhang, Yuanfeng;  Liu, Yinghui;  Liu, Xiaoqian;  An, Licai;  Huang, Baohua 收藏  |  浏览/下载：13/0  |  提交时间：2020/01/03 Chronic myelogenous leukemia  primary blast phase  coagulation disorder  case report  chromosome translocation   Human umbilical cord mesenchymal stem cells derived exosomes exert antiapoptosis effect via activating PI3K/Akt/mTOR pathway on H9C2 cells 期刊论文 2019, 卷号: 120, 期号: 9, 页码: 14455-14464 作者:  Liu, Hui;  Sun, Xiaolu;  Gong, Xuhe;  Wang, Guogan 收藏  |  浏览/下载：13/0  |  提交时间：2020/01/03 apoptosis  autophagy  exosomes  PI3K/Akt/mTOR pathway  umbilical cord mesenchymal stem cells   TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model 期刊论文 2019, 卷号: 21, 期号: 7, 页码: 1548-1558 作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng 收藏  |  浏览/下载：33/0  |  提交时间：2020/01/03 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   TAp73-induced phosphofructokinase-1 transcription promotes the Warburg effect and enhances cell proliferation 期刊论文 2018, 卷号: 9, 期号: 1, 页码: 4683 作者:  Li, Le;  Li, Lijia;  Li, Wei;  Chen, Taiqi;  Zou, Bin 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03 Complete Genome Sequence of a Novel Recombinant GII.P16-GII.1 Norovirus Associated with a Gastroenteritis Outbreak in Shandong Province, China, in 2017 期刊论文 2018, 卷号: 6, 期号: 6 作者:  Wang Chunrong;  Ao Yuanyun;  Yu Jiemei;  Xie Xiaolu;  Deng Hongyan 收藏  |  浏览/下载：11/0  |  提交时间：2020/01/03 17p13.3 genomic rearrangement in a Chinese family with split-hand/foot malformation with long bone deficiency: report of a complicated duplication with marked variation in phenotype 期刊论文 2018, 卷号: 13, 期号: 1, 页码: 106 作者:  Shen, Yuqi;  Si, Nuo;  Liu, Zhe;  Liu, Fang;  Meng, Xiaolu 收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03 Split hand/foot malformation with long bone deficiency  17p13.3 genomic rearrangement  BHLHA9   Brain Structural and Perfusion Signature of Amyotrophic Latera Sclerosis With Varying Levels of Cognitive Deficit 期刊论文 2018, 卷号: 9, 页码: 364 作者:  Shen, Dongchao;  Hou, Bo;  Xu, Yinyan;  Cui, Bo;  Peng, Pan 收藏  |  浏览/下载：7/0  |  提交时间：2020/01/03 amyotrophic lateral sclerosis  cognitive impairment  frontotemporal dementia  voxel-based morphometry  arterial spin labeling  cerebral blood flow