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Novel alanyl-tRNA synthetase 2 (AARS2) homozygous mutation in a consanguineous Chinese family with premature ovarian insufficiency 期刊论文
2019, 卷号: 112, 期号: 3, 页码: 569-+
作者:  Zhou, Yiran;  Chen, Beili;  Li, Lin;  Pan, Hong;  Liu, Beihong
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
CAPS Mutations Are Potentially Associated with Unexplained Recurrent Pregnancy Loss 期刊论文
2019, 卷号: 189, 期号: 1, 页码: 124-131
作者:  Pan, Hong;  Xiang, Huifen;  Wang, Jing;  Wei, Zhaolian;  Zhou, Yiran
收藏  |  浏览/下载:6/0  |  提交时间:2020/01/03
TNFRSF21 mutations cause high myopia 期刊论文
2019, 卷号: 56, 期号: 10, 页码: 671-677
作者:  Pan Hong;  Wu Shijing;  Wang Jing;  Zhu Tian;  Li Tengyan
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
Carrying the T Allele of the SNP rs574344, an eQTL of GSTM1, Contributes to Longevity in the Han Chinese Population 期刊论文
2019, 卷号: 23, 期号: 1, 页码: 12-15
作者:  Zhang, Yunxia;  Zhang, Siyang;  Yan, Dongjing;  Pan, Hong;  Liu, Beihong
收藏  |  浏览/下载:11/0  |  提交时间:2020/01/03
longevity  Chinese  SNP  eQTL  GSTM1  
A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report 期刊论文
2018, 卷号: 97, 期号: 32, 页码: e11499
作者:  Wang, Lihua;  Qi, Anhui;  Pan, Hong;  Liu, Beihong;  Feng, Jingjing
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
Mutations in EPAS1 in congenital heart disease in Tibetans 期刊论文
2018, 卷号: 38
作者:  Pan, Hong;  Chen, Qiuhong;  Qi, Shenggui;  Li, Tengyan;  Liu, Beihong
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/03
Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis 期刊论文
2018, 卷号: 18, 期号: 1, 页码: 76
作者:  Gong, Licheng;  Liu, Beihong;  Wang, Jing;  Pan, Hong;  Qi, Anhui
收藏  |  浏览/下载:2/0  |  提交时间:2020/01/03
A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency 期刊论文
2018, 卷号: 36, 期号: 2, 页码: 206-209
作者:  Zhang, Wei;  Wang, Jing;  Wang, Xi;  Li, Lin;  Pan, Hong
收藏  |  浏览/下载:2/0  |  提交时间:2020/01/03
Sequence variants of KHDRBS1 as high penetrance susceptibility risks for primary ovarian insufficiency by mis-regulating mRNA alternative splicing 期刊论文
2017, 卷号: 32, 期号: 10, 页码: 2138-2146
作者:  Wang, Binbin;  Li, Lin;  Zhu, Ying;  Zhang, Wei;  Wang, Xi
收藏  |  浏览/下载:5/0  |  提交时间:2020/01/03
Identification and functional analysis of a novel LHX1 mutation associated with congenital absence of the uterus and vagina 期刊论文
2017, 卷号: 8, 期号: 5, 页码: 8785-8790
作者:  Zhang, Wei;  Zhou, Xueya;  Liu, Liyang;  Zhu, Ying;  Liu, Chunmei
收藏  |  浏览/下载:4/0  |  提交时间:2020/01/04


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