المؤلفون: Zhang Chuan, Cai Ruikun, Li Qian, Mei Shiyue, Hao Shengju, Yuan Yong, Li Haibo, Xiao Neng, Zhao Yong, Xue Huiqin, Wang Weijia, Hui Ling, Zhou Bingbo, Qinghua Zhang, Wang Yan, Cao Zongfu, Ma Xu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: infant and children epilepsy, variant, phenotypes, WES, genetics counseling, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.869210/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/c8ac3de9f3fd481caa59a778aa3835f4Test

المؤلفون: Zhang, Lu, Li, Kai, Liu, Zhiwei, An, Lisha, Wei, Haikun, Pang, Shanshan, Cao, Zongfu, Huang, Xingxu, Jin, Xiaohua, Ma, Xu

المساهمون: National Natural Science Foundation of China

المصدر: Molecular Therapy ; ISSN 1525-0016

مصطلحات موضوعية: Drug Discovery, Pharmacology, Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1016/j.ymthe.2024.03.028Test
https://api.elsevier.com/content/article/PII:S1525001624001692?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1525001624001692?httpAccept=text/plainTest

المؤلفون: Zhang, Chuan, Yan, Yousheng, Zhou, Bingbo, Wang, Yupei, Tian, Xinyuan, Hao, Shengju, Ma, Panpan, Zheng, Lei, Zhang, Qinghua, Hui, Ling, Wang, Yan, Cao, Zongfu, Ma, Xu

المساهمون: National Key Research and Development Program of China, Lanzhou Science and Technology Plan Project, National Population and Reproductive Health Science Data Center, National Science and Technology Resource Sharing Service Platform Project, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Natural Science Foundation

المصدر: Orphanet Journal of Rare Diseases ; volume 18, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-023-02742-1Test

المؤلفون: Zhang, Chuan, Zhang, Pei, Yan, Yousheng, Zhou, Bingbo, Wang, Yupei, Tian, Xinyuan, Hao, Shengju, Ma, Panpan, Zheng, Lei, Zhang, Qinghua, Hui, Ling, Wang, Yan, Cao, Zongfu, Ma, Xu

المساهمون: National Key Research and Development Program of China, Lanzhou Science and Technology Plan Project, National Population and Reproductive Health Science Data Center, National Science and Technology Resource Sharing Service Platform Project, Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Gansu Natural Science Foundation

المصدر: Human Genomics ; volume 17, issue 1 ; ISSN 1479-7364

مصطلحات موضوعية: Drug Discovery, Genetics, Molecular Biology, Molecular Medicine

الإتاحة: https://doi.org/10.1186/s40246-023-00475-7Test

المؤلفون: Shen, Yue, Lu, Chao, Cheng, Tingting, Cao, Zongfu, Chen, Cuixia, Ma, Xu, Gao, Huafang, Luo, Minna

المساهمون: National Key Research and Development Program of China, The Non-profit Central Research Institute Fund of National Research Institute for Family Planning

المصدر: BMC Medical Genomics ; volume 16, issue 1 ; ISSN 1755-8794

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/s12920-023-01438-6Test

المؤلفون: Zhou, Biting, Yang, Juhua, Bai, Yue, Li, Yufei, Chen, Shuyang, Chen, Xiaole, Zhang, Nanwen, Cao, Zongfu, Zhu, Yihua, Xu, Yingying

المصدر: Ophthalmic Research ; volume 67, issue 1, page 62-75 ; ISSN 0030-3747 1423-0259

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Sensory Systems, Ophthalmology, General Medicine

الإتاحة: https://doi.org/10.1159/000535788Test
https://karger.com/ore/article-pdf/67/1/62/4165606/000535788.pdfTest

المؤلفون: Lin, Zaisheng, Shen, Yue, Li, Yan, Lu, Chao, Zhu, Ying, He, Ruida, Cao, Zongfu, Yin, Zhe, Gao, Huafang, Guo, Bin, Ma, Xu, Cao, Muqing, Luo, Minna

المساهمون: National Natural Science Foundation of China

المصدر: Journal of Cellular Physiology ; volume 239, issue 4 ; ISSN 0021-9541 1097-4652

الإتاحة: https://doi.org/10.1002/jcp.31189Test

المؤلفون: Zhuang, Jianfu, Zhang, Rongcai, Zhou, Biting, Cao, Zongfu, Zhou, Jie, Chen, Xiaole, Zhang, Nanwen, Zhu, Yihua, Yang, Juhua

المساهمون: National Natural Science Foundation of China, Natural Science Foundation of Fujian Province, Medicine and Health Science, Technology Plan Projects of Xiamen City

المصدر: Ophthalmic Genetics ; volume 45, issue 2, page 147-152 ; ISSN 1381-6810 1744-5094

الإتاحة: https://doi.org/10.1080/13816810.2023.2294843Test

المؤلفون: Wu, Jie, Cao, Zongfu, Su, Yu, Wang, Yang, Cai, Ruikun, Chen, Jiyue, Gao, Bo, Han, Mingyu, Li, Xiaohong, Zhang, DeJun, Gao, Xue, Huang, Shasha, Huang, Quanfei, Yuan, Yongyi, Ma, Xu, Dai, Pu

المساهمون: National Science Foundation of China | Key Programme, Postdoctoral Research Foundation of China

المصدر: Journal of Human Genetics ; volume 67, issue 11, page 643-649 ; ISSN 1434-5161 1435-232X

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s10038-022-01066-5Test
https://www.nature.com/articles/s10038-022-01066-5.pdfTest
https://www.nature.com/articles/s10038-022-01066-5Test

المؤلفون: Song, Yingnan, Yin, Zhe, Zhang, Chuan, Hao, Shengju, Li, Haibo, Wang, Shifan, Yang, Xiangchun, Li, Qiong, Zhuang, Danyan, Zhang, Xinyuan, Cao, Zongfu, Ma, Xu

المصدر: Frontiers in Molecular Biosciences ; volume 9 ; ISSN 2296-889X

الإتاحة: https://doi.org/10.3389/fmolb.2022.986556Test