未登录
分享
收藏
分享
收藏The landscape of chromosomal aberrations in couples seeking assisted reproductive treatment寻求辅助生殖治疗的夫妇中染色体异常的景观
Yuan, Shimin; Cheng, Dehua; Zhang, Qing; Zheng, Qing; Zhang, Hua; Zhang, Jun; Mo, Lanxiang; Di, Yufen; Liu, Xin; Xiao, Dun; Xiong, Qiaoyuan; Wang, Yinhui; Yi, Duo; Guo, Yongteng; She, Xueni; Yang, Qiang; Nie, Shuangshuang; Tan, Qin; Xie, Chunbo; Wang, Qi; Song, Xuan; Zhang, Danjun; Hu, Xiaoyu; Meng, Lanlan; Peng, Yangqin; Du, Juan; Hu, Liang; Zhong, Changgao; Hu, Hao; Li, Xiurong; Zhang, Kailin; Feng, Lingzhi; Gong, Fei; Lu, Guangxiu; Lin, Ge; Tan, Yue-Qiu
分享
收藏
分享
收藏Lung-specific SFTPC mutations lead to neurodevelopmental disorders with neuroinflammation肺特异性SFTPC突变导致伴有神经炎症的神经发育障碍
Dong, Haipeng; Zang, Congwen; Liu, Lili; Guo, Leqin; Ye, Xiangyan; Li, Xiangmiao; Zhou, Chang; Sun, Chuanbo; Yang, Miaomiao; Wei, Xinshu; Lin, Bing; Li, Hong; Wang, Hanhong; Qi, Yifei; Hu, Hao; Li, Na
分享
收藏Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects
Wang, Yanyan; Kraemer, Nadine; Schneider, Joanna; Ninnemann, Olaf; Weng, Kai; Hildebrand, Michael; Reid, Joshua; Li, Na; Hu, Hao; Mani, Shyamala; Kaindl, Angela M.
分享
收藏
分享
收藏Visualization of argininosuccinate synthetase by in silico analysis: novel insights into citrullinemia type I disorders
Gu, Xia; Mo, Wenhui; Zhuang, Guiying; Shi, Congcong; Wei, Tao; Zhang, Jinze; Tu, Chiaowen; Cai, Yao; Liao, Biwen; Hao, Hu
分享
收藏Functional EPAS1/HIF2A missense variant is associated with hematocrit in Andean highlanders
Lawrence, Elijah S.; Gu, Wanjun; Bohlender, Ryan J.; Anza-Ramirez, Cecilia; Cole, Amy M.; Yu, James J.; Hu, Hao; Heinrich, Erica C.; O'Brien, Katie A.; Vasquez, Carlos A.; Cowan, Quinn T.; Bruck, Patrick T.; Mercader, Kysha; Alotaibi, Mona; Long, Tao; Hall, James E.; Moya, Esteban A.; Bauk, Marco A.; Reeves, Jennifer J.; Kong, Mitchell C.; Salem, Rany M.; Vizcardo-Galindo, Gustavo; Macarlupu, Jose-Luis; Figueroa-Mujica, Romulo; Bermudez, Daniela; Corante, Noemi; Gaio, Eduardo; Fox, Keolu P.; Salomaa, Veikko; Havulinna, Aki S.; Murray, Andrew J.; Malhotra, Atul; Powel, Frank L.; Jain, Mohit; Komor, Alexis C.; Cavalleri, Gianpiero L.; Huff, Chad D.; Villafuerte, Francisco C.; Simonson, Tatum S.
分享
收藏PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
Petit, Florence; Longoni, Mauro; Wells, Julie; Maser, Richard S.; Bogenschutz, Eric L.; Dysart, Matthew J.; Contreras, Hannah T. M.; Frenois, Frederic; Pober, Barbara R.; Clark, Robin D.; Giampietro, Philip F.; Ropers, Hilger H.; Hu, Hao; Loscertales, Maria; Wagner, Richard; Ai, Xingbin; Brand, Harrison; Jourdain, Anne-Sophie; Delrue, Marie-Ange; Gilbert-Dussardier, Brigitte; Devisme, Louise; Keren, Boris; McCulley, David J.; Qiao, Lu; Hernan, Rebecca; Wynn, Julia; Scott, Tiana M.; Calame, Daniel G.; Coban-Akdemir, Zeynep; Hernandez, Patricia; Hernandez-Garcia, Andres; Yonath, Hagith; Lupski, James R.; Shen, Yufeng; Chung, Wendy K.; Scott, Daryl A.; Bult, Carol J.; Donahoe, Patricia K.; High, Frances A.
分享
收藏
分享
收藏
分享
收藏
分享
收藏
分享
收藏Monoallelic CRMP1 gene variants cause neurodevelopmental disorder单等位基因CRMP1基因变异导致神经发育障碍
Ravindran, Ethiraj; Arashiki, Nobuto; Becker, Lena-Luise; Takizawa, Kohtaro; Levy, Jonathan; Rambaud, Thomas; Makridis, Konstantin L.; Goshima, Yoshio; Li, Na; Vreeburg, Maaike; Demeer, Benedicte; Dickmanns, Achim; Stegmann, Alexander P. A.; Hu, Hao; Nakamura, Fumio; Kaindl, Angela M.
分享
收藏
分享
收藏
分享
收藏
分享
收藏RNA splicing analysis contributes to reclassifying variants of uncertain significance and improves the diagnosis of monogenic disorders
He, Wen-Bin; Xiao, Wen-Juan; Dai, Cong-Ling; Wang, Yu-Rong; Li, Xiu-Rong; Gong, Fei; Meng, Lan-Lan; Tan, Chen; Zeng, Si-Cong; Lu, Guang-Xiu; Lin, Ge; Tan, Yue-Qiu; Hu, Hao; Du, Juan
分享
收藏Contributes to Hypoxia-Promoted Tumorigenesis and Metastasis of Pancreatic Cancer (vol 11, 761979, 2021)
Jin, Yan; Zhang, Zhengming; Yu, Qiao; Zeng, Zhu; Song, Hong; Huang, Xiaoxu; Kong, Qi; Hu, Hao; Xia, Yabin
分享
收藏