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浏览/检索结果: 共3条，第1-3条 帮助 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 A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency 期刊论文 HUMAN REPRODUCTION, 2017, 卷号: 32, 页码: 248-255 作者:  Li, Lin[1,2];  Wang, Binbin[3,4];  Zhang, Wei[3,4];  Chen, Beili[5];  Luo, Minna[3] 收藏  |  浏览/下载：5/0  |  提交时间：2019/04/24 primary ovarian insufficiency  NOBOX  homozygous truncating variant  GDF9  G2  M arrest   A homozygous NOBOX truncating variant causes defective transcriptional activation and leads to primary ovarian insufficiency 期刊论文 2017, 卷号: 32, 期号: 1, 页码: 248-255 作者:  Li, Lin;  Wang, Binbin;  Zhang, Wei;  Chen, Beili;  Luo, Minna 收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04 primary ovarian insufficiency  NOBOX  homozygous truncating variant  GDF9  G2  M arrest   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