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浏览/检索结果: 共14条，第1-10条 帮助 限定条件 专题：复旦大学上海医学院    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：请选择发表日期升序发表日期降序提交时间升序提交时间降序题名升序题名降序作者升序作者降序 Novel CFAP43 and CFAP44 mutations cause male infertility with multiple morphological abnormalities of the sperm flagella (MMAF) 期刊论文 REPRODUCTIVE BIOMEDICINE ONLINE, 2019, 卷号: 38, 期号: 5 作者:  Wu, Huan;  Li, Weiyu;  He, Xiaojin;  Liu, Chunyu;  Fang, Youyan 收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05 CFAP43  CFAP44  MMAF  Male infertility  Sperm flagella  WES   Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella 期刊论文 JOURNAL OF MEDICAL GENETICS, 2019, 卷号: 56, 期号: 2 作者:  He, Xiaojin;  Li, Weiyu;  Wu, Huan;  Lv, Mingrong;  Liu, Wangjie 收藏  |  浏览/下载：38/0  |  提交时间：2019/12/05 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 GENETICS IN MEDICINE, 2019, 卷号: 21, 期号: 7 作者:  Liu, Jiaqi;  Wu, Nan;  Yang, Nan;  Takeda, Kazuki;  Chen, Weisheng 收藏  |  浏览/下载：62/0  |  提交时间：2019/12/05 congenital scoliosis (CS)  16p11.2/TBX6  compound inheritance model  genotype-phenotype correlation  gene dosage   Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia 期刊论文 JOURNAL OF GENETICS AND GENOMICS, 2019, 卷号: 46, 期号: 1 作者:  Liu, Wangjie;  Wu, Huan;  Wang, Li;  Yang, Xiaoyu;  Liu, Chunyu 收藏  |  浏览/下载：37/0  |  提交时间：2019/12/05 Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella 期刊论文 NATURE COMMUNICATIONS, 2019, 卷号: 10 作者:  Shen, Ying;  Zhang, Feng;  Li, Fuping;  Jiang, Xiaohui;  Yang, Yihong 收藏  |  浏览/下载：39/0  |  提交时间：2019/12/05 Loss-of-function mutations in QRICH2 cause male infertility with multiple morphological abnormalities of the sperm flagella (vol 10, 433, 2019) 期刊论文 NATURE COMMUNICATIONS, 2019, 卷号: 10 作者:  Shen, Ying;  Zhang, Feng;  Li, Fuping;  Jiang, Xiaohui;  Yang, Yihong 收藏  |  浏览/下载：28/0  |  提交时间：2019/12/05 TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice 期刊论文 HUMAN MOLECULAR GENETICS, 2019, 卷号: 28, 期号: 4 作者:  Yang, Nan;  Wu, Nan;  Zhang, Ling;  Zhao, Yanxue;  Liu, Jiaqi 收藏  |  浏览/下载：25/0  |  提交时间：2019/12/05 Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility 期刊论文 JOURNAL OF HUMAN GENETICS, 2019, 卷号: 64, 期号: 1 作者:  Li, Weiyu;  He, Xiaojin;  Yang, Shenmin;  Liu, Chunyu;  Wu, Huan 收藏  |  浏览/下载：29/0  |  提交时间：2019/12/05 Bi-allelic Mutations in TTC21A Induce Asthenoteratospermia in Humans and Mice 期刊论文 AMERICAN JOURNAL OF HUMAN GENETICS, 2019, 卷号: 104, 期号: 4 作者:  Liu, Wangjie;  He, Xiaojin;  Yang, Shenmin;  Zouari, Raoudha;  Wang, Jiaxiong 收藏  |  浏览/下载：36/0  |  提交时间：2019/12/05 Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella 期刊论文 AMERICAN JOURNAL OF HUMAN GENETICS, 2017, 卷号: 100, 期号: 6 作者:  Tang, Shuyan;  Wang, Xiong;  Li, Weiyu;  Yang, Xiaoyu;  Li, Zheng 收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05