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收藏A novel NPHP4 homozygous missense variant identified in infertile brothers with multiple morphological abnormalities of the sperm flagella
Ali, Asim; Unar, Ahsanullah; Muhammad, Zubair; Dil, Sobia; Zhang, Beibei; Sadaf, Humaira; Khan, Manan; Ali, Muhammad; Khan, Ranjha; Shah, Kakakhel Mian Basit; Ma, Ao; Jiang, Xiaohua; Zhang, Yuanwei; Zhang, Huan; Shi, Qinghua 分享 收藏 Biallelic mutations in RNA-binding protein ADAD2 cause spermiogenic failure and non-obstructive azoospermia in humansShi, Baolu; Shah, Wasim; Liu, Li; Gong, Chenjia; Zhou, Jianteng; Abbas, Tanveer; Ma, Hui; Zhang, Huan; Yang, Menglei; Zhang, Yuanwei; Ullah, Nadeem; Mahammad, Zubair; Khan, Mazhar; Murtaza, Ghulam; Ali, Asim; Khan, Ranjha; Sha, Jiahao; Yuan, Yan; Shi, Qinghua 分享 收藏 Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans (vol 108, pg 324, 2021)Fan, Suixing; Jiao, Yuying; Khan, Ranjha; Jiang, Xiaohua; Javed, Abdul Rafay; Ali, Asim; Zhang, Huan; Zhou, Jianteng; Naeem, Muhammad; Murtaza, Ghulam; Li, Yang; Yang, Gang; Zaman, Qumar; Zubair, Muhammad; Guan, Haiyang; Zhang, Xingxia; Ma, Hui; Jiang, Hanwei; Ali, Haider; Dil, Sobia; Shah, Wasim; Ahmad, Niaz; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 分享 收藏 FertilityOnline: A Straightforward Pipeline for Functional Gene Annotation and Disease Mutation DiscoveryGao, Jianing; Zhang, Huan; Jiang, Xiaohua; Ali, Asim; Zhao, Daren; Bao, Jianqiang; Jiang, Long; Iqbal, Furhan; Shi, Qinghua; Zhang, Yuanwei 分享 收藏 Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and MiceKhan, Ranjha; Zaman, Qumar; Chen, Jing; Khan, Manan; Ma, Ao; Zhou, Jianteng; Zhang, Beibei; Ali, Asim; Naeem, Muhammad; Zubair, Muhammad; Zhao, Daren; Shah, Wasim; Khan, Mazhar; Zhang, Yuanwei; Xu, Bo; Zhang, Huan; Shi, Qinghua 分享 收藏 Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humansFan, Suixing; Jiao, Yuying; Khan, Ranjha; Jiang, Xiaohua; Javed, Abdul Rafay; Ali, Asim; Zhang, Huan; Zhou, Jianteng; Naeem, Muhammad; Murtaza, Ghulam; Li, Yang; Yang, Gang; Zaman, Qumar; Zubair, Muhammad; Guan, Haiyang; Zhang, Xingxia; Ma, Hui; Jiang, Hanwei; Ali, Haider; Dil, Sobia; Shah, Wasim; Ahmad, Niaz; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 A TOP6BL mutation abolishes meiotic DNA double-strand break formation and causes human infertilityTOP6BL突变消除了减数分裂DNA双链断裂的形成并导致人类不育Jiao, Yuying; Fan, Suixing; Jabeen, Nazish; Zhang, Huan; Khan, Ranjha; Murtaza, Ghulam; Jiang, Hanwei; Ali, Asim; Li, Yang; Bao, Jianqiang; Zhang, Beibei; Xu, Jianze; Xu, Bo; Hussain, Hafiz Muhammad Jafar; Zaman, Qumar; Khan, Ihsan; Bukhari, Ihtisham; Iqbal, Furhan; Yousaf, Ayesha; Dil, Sobia; Khan, Manan; Ahmad, Niaz; Ma, Hui; Jiang, Xiaohua; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 A DNAH17 missense variant causes flagella destabilization and asthenozoospermiaZhang, Beibei; Ma, Hui; Khan, Teka; Ma, Ao; Li, Tao; Zhang, Huan; Gao, Jianing; Zhou, Jianteng; Li, Yang; Yu, Changping; Bao, Jianqiang; Ali, Asim; Murtaza, Ghulam; Yin, Hao; Gao, Qian; Jiang, Xiaohua; Zhang, Feng; Liu, Chunyu; Khan, Ihsan; Zubair, Muhammad; Hussain, Hafiz Muhammad Jafar; Khan, Ranjha; Yousaf, Ayesha; Yuan, Limin; Lu, Yan; Xu, Xiaoling; Wang, Yun; Tao, Qizhao; Hao, Qiaomei; Fang, Hui; Cheng, Hongtao; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 分享 收藏 Npat-dependent programmed Sertoli cell proliferation is indispensable for testis cord development and germ cell mitotic arrestNpat依赖性程序性支持细胞增殖对于睾丸脊髓发育和生殖细胞有丝分裂阻滞是必不可少的Jiang, Xiaohua; Yin, Shi; Fan, Suixing; Bao, Jianqiang; Jiao, Yuying; Ali, Asim; Iqbal, Furhan; Xu, Juan; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia PhenotypesBurrage, Lindsay C.; Reynolds, John J.; Baratang, Nissan Vida; Phillips, Jennifer B.; Wegner, Jeremy; McFarquhar, Ashley; Higgs, Martin R.; Christiansen, Audrey E.; Lanza, Denise G.; Seavitt, John R.; Jain, Mahim; Li, Xiaohui; Parry, David A.; Raman, Vandana; Chitayat, David; Chinn, Ivan K.; Bertuch, Alison A.; Karaviti, Lefkothea; Schlesinger, Alan E.; Earl, Dawn; Bamshad, Michael; Savarirayan, Ravi; Doddapaneni, Harsha; Muzny, Donna; Jhangiani, Shalini N.; Eng, Christine M.; Gibbs, Richard A.; Bi, Weimin; Emrick, Lisa; Rosenfeld, Jill A.; Postlethwait, John; Westerfield, Monte; Dickinson, Mary E.; Beaudet, Arthur L.; Ranza, Emmanuelle; Huber, Celine; Cormier-Daire, Valerie; Shen, Wei; Mao, Rong; Heaney, Jason D.; Orange, I. Jordan S.; Bertola, Debora; Yamamoto, Guilherme L.; Baratela, Wagner Ar; Butler, Merlin G.; Ali, Asim; Adeli, Mehdi; Cohn, Daniel H.; Krakow, Deborah; Jackson, Andrew P.; Lees, Melissa; Offiah, Amaka C.; Carlston, Colleen M.; Carey, John C.; Stewart, Grant S.; Bacino, Carlos A.; Campeau, Philippe M.; Lee, Brendan 分享 收藏 A homozygous FANCM frameshift pathogenic variant causes male infertilityYin, Hao; Ma, Hui; Hussain, Sajjad; Zhang, Huan; Xie, Xuefeng; Jiang, Long; Jiang, Xiaohua; Iqbal, Furhan; Bukhari, Ihtisham; Jiang, Hanwei; Ali, Asim; Zhong, Liangwen; Li, Tao; Fan, Suixing; Zhang, Beibei; Gao, Jianing; Li, Yang; Nazish, Jabeen; Khan, Teka; Khan, Manan; Zubair, Muhammad; Hao, Qiaomei; Fang, Hui; Huang, Jun; Huleihel, Mahmoud; Sha, Jiahao; Pandita, Tej K.; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 A homozygous FANCM frameshift pathogenic variant causes male infertility (vol 21, pg 266, 2018)Yin, Hao; Ma, Hui; Hussain, Sajjad; Zhang, Huan; Xie, Xuefeng; Jiang, Long; Jiang, Xiaohua; Iqbal, Furhan; Bukhari, Ihtisham; Jiang, Hanwei; Ali, Asim; Zhong, Liangwen; Li, Tao; Fan, Suixing; Zhang, Beibei; Gao, Jianing; Li, Yang; Nazish, Jabeen; Khan, Teka; Khan, Manan; Zubair, Muhammad; Hao, Qiaomei; Fang, Hui; Huang, Jun; Huleihel, Mahmoud; Sha, Jiahao; Pandita, Tej K.; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 分享 收藏 MOF influences meiotic expansion of H2AX phosphorylation and spermatogenesis in miceJiang, Hanwei; Gao, Qian; Zheng, Wei; Yin, Shi; Wang, Liu; Zhong, Liangwen; Ali, Asim; Khan, Teka; Hao, Qiaomei; Fang, Hui; Sun, Xiaoling; Xu, Peng; Pandita, Tej K.; Jiang, Xiaohua; Shi, Qinghua 分享 收藏 The evolutionarily conserved genes: Tex37, Ccdc73, Prss55 and Nxt2 are dispensable for fertility in miceKhan, Manan; Jabeen, Nazish; Khan, Teka; Hussain, Hafiz Muhammad Jafar; Ali, Asim; Khan, Ranjha; Jiang, Long; Li, Tao; Tao, Qizhao; Zhang, Xingxia; Yin, Hao; Yu, Changping; Jiang, Xiaohua; Shi, Qinghua 分享 收藏 分享 收藏 Histone acetyltransferase KAT8 is essential for mouse oocyte development by regulating reactive oxygen species levelsYin, Shi; Jiang, Xiaohua; Jiang, Hanwei; Gao, Qian; Wang, Fang; Fan, Suixing; Khan, Teka; Jabeen, Nazish; Khan, Manan; Ali, Asim; Xu, Peng; Pandita, Tej K.; Fan, Heng-Yu; Zhang, Yuanwei; Shi, Qinghua 分享 收藏 
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