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Bi-allelic MEI1 variants cause meiosis arrest and non-obstructive azoospermia 期刊论文
JOURNAL OF HUMAN GENETICS;, 2023
作者:  Zhang, Yuxiang;  Li, Na;  Ji, Zhiyong;  Bai, Haowei;  Ou, Ningjing
收藏  |  浏览/下载:486/0  |  提交时间:2023/03/24
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2022, 卷号: 109, 期号: 11
作者:  Mohajeri, Kiana;  Yadav, Rachita;  D'haene, Eva;  Boone, Philip M.;  Erdin, Serkan
Adobe PDF(3584Kb)  |  收藏  |  浏览/下载:575/173  |  提交时间:2023/01/16
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease 期刊论文
HUMAN MOLECULAR GENETICS, 2021, 卷号: 31, 期号: 4
作者:  Zheng, Wen-Qiang;  Pedersen, Signe Vandal;  Thompson, Kyle;  Bellacchio, Emanuele;  French, Courtney E.
Adobe PDF(1881Kb)  |  收藏  |  浏览/下载:296/13  |  提交时间:2021/09/26
RET compound inheritance in Chinese patients with Hirschsprung disease: lack of penetrance from insufficient gene dysfunction 期刊论文
HUMAN GENETICS, 2021, 卷号: 140, 期号: 5, 页码: 813-825
作者:  Jiang, Qian;  Wang, Yang;  Gao, Yang;  Wang, Hui;  Zhang, Zhen
Adobe PDF(3512Kb)  |  收藏  |  浏览/下载:423/0  |  提交时间:2021/02/19
MultiWaver 2.0: modeling discrete and continuous gene flow to reconstruct complex population admixtures 期刊论文
EUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 卷号: 27, 期号: 1, 页码: 133-139
作者:  Ni, Xumin;  Yuan, Kai;  Liu, Chang
Adobe PDF(990Kb)  |  收藏  |  浏览/下载:516/0  |  提交时间:2019/01/08
Paternal origin of Paleo-Indians in Siberia: insights from Y-chromosome sequences 期刊论文
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 卷号: 26, 期号: 11, 页码: 1687-1696
作者:  Wei, Lan-Hai;  Wang, Ling-Xiang;  Wen, Shao-Qing;  Yan, Shi;  Canada, Rebekah
Adobe PDF(1069Kb)  |  收藏  |  浏览/下载:573/0  |  提交时间:2018/10/27
Genetic relatedness of indigenous ethnic groups in northern Borneo to neighboring populations from Southeast Asia, as inferred from genome-wide SNP data 期刊论文
ANNALS OF HUMAN GENETICS, 2018, 卷号: 82, 期号: 4, 页码: 216-226
作者:  Yew, Chee Wei;  Hoque, Mohd Zahirul;  Pugh-Kitingan, Jacqueline;  Minsong, Alexander;  Voo, Christopher Lok Yung
Adobe PDF(1590Kb)  |  收藏  |  浏览/下载:600/0  |  提交时间:2018/07/02
A genome-wide characterization of copy number variations in native populations of Peninsular Malaysia 期刊论文
EUROPEAN JOURNAL OF HUMAN GENETICS, 2018, 卷号: 26, 期号: 6, 页码: 886-897
作者:  Fu, Ruiqing;  Mokhtar, Siti Shuhada;  Phipps, Maude Elvira;  Hoh, Boon-Peng;  Xu, Shuhua
Adobe PDF(2480Kb)  |  收藏  |  浏览/下载:465/0  |  提交时间:2018/07/04
Predominant patterns of splicing evolution on human, chimpanzee and macaque evolutionary lineages 期刊论文
HUMAN MOLECULAR GENETICS, 2018, 卷号: 27, 期号: 8, 页码: 1474-1485
作者:  Xiong, Jieyi;  Jiang, Xi;  Ditsiou, Angeliki;  Gao, Yang;  Sun, Jing
Adobe PDF(1592Kb)  |  收藏  |  浏览/下载:518/1  |  提交时间:2018/05/10
Genome-wide comparison of allele-specific gene expression between African and European populations 期刊论文
HUMAN MOLECULAR GENETICS, 2018, 卷号: 27, 期号: 6, 页码: 1067-1077
作者:  Tian, Lei;  Khan, Asifullah;  Ning, Zhilin;  Yuan, Kai;  Zhang, Chao
Adobe PDF(720Kb)  |  收藏  |  浏览/下载:533/1  |  提交时间:2018/04/11
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