CORC

在结果中检索

CORC

浏览/检索结果: 共33条，第1-10条 帮助

已选(0)清除 条数/页：   排序方式：
Whole-exome sequencing reveals SALL4 variants in premature ovarian insufficiency: an update on genotype-phenotype correlations 期刊论文
HUMAN GENETICS, 2019, 卷号: 138, 期号: 1
作者:  Wang, Xiuxia;  Wang, Qiqi;  Li, Da;  Cai, Baozhu;  Chen, Qing
收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta 期刊论文
HUMAN MUTATION, 2019, 卷号: 40, 期号: 5, 页码: 588-600
作者:  Li, Lulu;  Mao, Bin;  Li, Shan;  Xiao, Jifang;  Wang, Han
收藏  |  浏览/下载：141/0  |  提交时间：2019/12/11
Genetic Analysis of KRT9 Gene Revealed Previously Known Mutations and Genotype-Phenotype Correlations in Epidermolytic Palmoplantar Keratoderma 期刊论文
FRONTIERS IN GENETICS, 2019, 卷号: Vol.9
作者:  Li, Yuwei;  Tang, Lili;  Han, Yang;  Zheng, Liyun;  Zhen, Qi
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/17
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. 期刊论文
Human mutation, 2019
作者:  Lulu Li;  Bin Mao;  Shan Li;  Jifang Xiao;  Han Wang
收藏  |  浏览/下载：31/0  |  提交时间：2019/12/17
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
Detection of ten novel FBN1 mutations in Chinese patients with typical or incomplete Marfan syndrome and an overview of the genotype-phenotype correlations 期刊论文
2019, 卷号: 293, 页码: 186-191
作者:  Gao, Linggen;  Tian, Tao;  Zhou, Xianliang;  Fan, Li;  Wang, Rong
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
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
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations 期刊论文
2019, 卷号: 40, 期号: 6, 页码: 801-815
作者:  Zhou, Wei-Zhen;  Zhang, Jie;  Li, Ziyi;  Lin, Xiaojing;  Li, Jiarui
收藏  |  浏览/下载：9/0  |  提交时间：2020/01/03
Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta 期刊论文
2019, 卷号: 40, 期号: 5, 页码: 588-600
作者:  Li, Lulu;  Mao, Bin;  Li, Shan;  Xiao, Jifang;  Wang, Han
收藏  |  浏览/下载：40/0  |  提交时间：2020/01/03
IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations 期刊论文
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2018, 卷号: 103, 期号: 11
作者:  Yang, Lin;  Xu, Dan-dan;  Sun, Cheng-jun;  Wu, Jing;  Wei, Hai-yan
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05

©版权所有 ©2017 CSpace - Powered by CSpace