CORC

在结果中检索

CORC

浏览/检索结果: 共14条，第1-10条 帮助

已选(0)清除 条数/页：   排序方式：
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) 期刊论文
REPRODUCTIVE SCIENCES, 2019, 卷号: 26, 期号: 1, 页码: 26-34
作者:  Sha, Yan-Wei;  Wang, Xiong;  Xu, Xiaohui;  Su, Zhi-Ying;  Cui, Yuanqing
收藏  |  浏览/下载：31/0  |  提交时间：2019/12/11
Biallelic mutations in PMFBP1 cause acephalic spermatozoa 期刊论文
Clinical Genetics, 2019, 卷号: Vol.95 No.2, 页码: 277-286
作者:  Yan‐Wei Sha;  Xiong Wang;  Xiaohui Xu;  Lu Ding;  Wen‐Sheng Liu
收藏  |  浏览/下载：23/0  |  提交时间：2019/12/13
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
Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing 期刊论文
2018, 卷号: 22, 期号: 3, 页码: 159-164
作者:  Khan, Amjad;  Wang, Rongrong;  Han, Shirui;  Ahmad, Wasim;  Zhang, Xue
收藏  |  浏览/下载：18/0  |  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
A homozygous missense variant in HSD17B4 identified in a consanguineous Chinese Han family with type II Perrault syndrome 期刊论文
BMC MEDICAL GENETICS, 2017, 卷号: 18
作者:  Chen, Kui;  Yang, Ke;  Luo, Su-Shan;  Chen, Chen;  Wang, Ying
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Novel compound heterozygous mutations of ALDH1A3 contribute to anophthalmia in a non-consanguineous Chinese family. 期刊论文
Genetics And Molecular Biology, 2017
作者:  Liu Y;  Lu Y;  Liu S;  Liao S
收藏  |  浏览/下载：2/0  |  提交时间：2019/02/25
Novel Mutations in CFAP44 and CFAP43 Cause Multiple Morphological Abnormalities of the Sperm Flagella (MMAF) 期刊论文
Reproductive Sciences, 2017
作者:  Sha Y.-W.;  Wang X.;  Xu X.;  Su Z.-Y.;  Cui Y.
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/16
Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome 期刊论文
Clinica Chimica Acta, 2016, 卷号: 458, 页码: 1-4
作者:  Gai, Nan;  Jiang, Chen;  Zou, Yong-Yi;  Zheng, Yu;  Liang, De-Sheng*
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/03
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

©版权所有 ©2017 CSpace - Powered by CSpace