المؤلفون: Bo Bi, Xiaohong Chen, Shan Huang, Min Peng, Weiyue Gu, Hongmin Zhu, Yangcan Ming

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-7 (2024)

مصطلحات موضوعية: Developmental delay, Intellectual disability, Motor delay, NUDT2, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/290e3c6ce10441948f3ce428c46a5d98

المؤلفون: Zhiwen Shi, Bolin Chen, Xiao Han, Weiyue Gu, Shuzhi Liang, Lin Wu

المصدر: Scientific Reports, Vol 13, Iss 1, Pp 1-15 (2023)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/21983987002a4471824ae723b9dd2761

المؤلفون: Ruihe Shi, Yuan Wang, Shujuan Zhou, Yanli Zhang, Shiwei Zheng, Dingfang Zhang, Xilong Du, Weiyue Gu, Yiran Xu, Changlian Zhu

المصدر: Frontiers in Cellular and Infection Microbiology, Vol 13 (2023)

مصطلحات موضوعية: metagenomic next-generation sequencing, bronchoalveolar lavage fluid, sputum, pediatric, lower respiratory tract infection, Microbiology, QR1-502

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcimb.2023.1228631/full; https://doaj.org/toc/2235-2988

URL الوصول: https://doaj.org/article/7470230049da41b186e666993a779d69

المؤلفون: Huiqin Xue, Qiaoyin Tang, Yu Feng, Chenyue Zhao, Ke Xu, Weiyue Gu, Zhaoyu Xue, Xinyan Li, Jinsong Jiang, Hongyong Lu, Xiayu Sun, Jianrui Wu, Guizhi Cao

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: MED12, clenched hand, overlapping fingers, clubfoot, case report, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1037345/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/92f0e650abff4a67999b76b3d2087fe7

المؤلفون: Xi Zhang, Neng Xiao, Yang Cao, Ying Peng, Aojie Lian, Yuanlu Chen, Pengchao Wang, Weiyue Gu, Bo Xiao, Jing Yu, Hua Wang, Li Shu

المصدر: Frontiers in Molecular Neuroscience, Vol 16 (2023)

مصطلحات موضوعية: MAST4, neurodevelopmental delay, infantile spasms, genetic, epilepsy, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1097553/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/2328cf1c9c0b4447b1051ac377d8b72b

المؤلفون: Hui Dang, Min Peng, Weiyue Gu, Gang Ding, Yuqin Sun, Zhongkai Hao, Ning Wei, Xu Wang, Chenming Zhang, Aijun Deng

المصدر: Journal of Ophthalmology, Vol 2023 (2023)

مصطلحات موضوعية: Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-0058

URL الوصول: https://doaj.org/article/8b48b92162ed403784d282a9810e22bd

المؤلفون: Hong Zheng, Shiyue Mei, Fuwei Li, Liwan Wei, Yanchu Wang, Jinrong Huang, Feng Zhang, Jia Huang, Yanping Liu, Weiyue Gu, Hongyan Liu

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: USP7 gene, neurodevelopmental disorder, hao-fountain syndrome, whole exome sequencing, molecular spectrum, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.970649/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/c002b1447c464c6c973ae7b7aecbc21e

المؤلفون: Ang Li, Siwen Liu, Peng Zhang, Xintong Hu, Guiying Li, Weiyue Gu, Yanfang Jiang

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: non-syndromic unilateral hearing loss, SIX1 gene, whole exome sequencing, genetic counseling, novel mutation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.1047230/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/0558a49a109e473ba536b728d0f4218a

المؤلفون: Yuan Chen, Hu Zhao, Jing Luo, Youping Liao, Xu Dan, Guoyu Hu, Weiyue Gu

المصدر: Frontiers in Oncology, Vol 12 (2022)

مصطلحات موضوعية: neoantigens, haploidentical T cells, adoptive T-cell therapy, peripheral T-cell lymphoma, phase I study, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fonc.2022.944511/full; https://doaj.org/toc/2234-943X

URL الوصول: https://doaj.org/article/1ecc03cf7174425c8392679eb70695b8

المؤلفون: Fang Fu, Ru Li, Xiao Dang, Qiuxia Yu, Ke Xu, Weiyue Gu, Dan Wang, Xin Yang, Min Pan, Li Zhen, Yongling Zhang, Fatao Li, Xiangyi Jing, Fucheng Li, Dongzhi Li, Can Liao

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: Balanced chromosomal abnormalities, prenatal diagnosis, whole-genome sequencing, CACNA1E, PDCL, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.951829/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/88d60392c67d4c40acd6feef9ffd394e

المؤلفون: Sumei Wang, Yejing Yu, Xu Wang, Xiaolong Deng, Jiehui Ma, Zhisheng Liu, Weiyue Gu, Dan Sun

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: developmental and epileptic encephalopathy, whole-exome sequencing, potassium channels, KCNC2, Kv3.2, R405G, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.950255/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/a921e281e82d49039f8fd81d01a84e1a

المؤلفون: Feng Zhang, Fuwei Li, Fujian Chen, Jinrong Huang, Qiong Luo, Xilong Du, Jiapeng Zhou, Weiyue Gu, Kaishou Xu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: trio-whole exome sequencing, developmental and epileptic encephalopathy 67, CUX2, levetiracetam treatment, CUX2 clinical phenotype, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.808181/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/35bb822c3dda4e19b88ad351b17892dc

المؤلفون: Chengxian Xu, Lingxiao Tong, Jia Rao, Qing Ye, Yuxia Chen, Yingying Zhang, Jie Xu, Xiaoting Mao, Feilong Meng, Huijun Shen, Zhihong Lu, Xiaohui Cang, Haidong Fu, Shugang Wang, Weiyue Gu, En-Yin Lai, Min-Xin Guan, Pingping Jiang, Jianhua Mao

المصدر: JCI Insight, Vol 7, Iss 11 (2022)

مصطلحات موضوعية: Nephrology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2379-3708

URL الوصول: https://doaj.org/article/286b853126764869b70ca5a635131c91

المؤلفون: Youfeng Zhou, Ke Xu, Weiyue Gu, Yan Huang

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 6, Pp n/a-n/a (2022)

مصطلحات موضوعية: congenital heart defects, global developmental delay, Microphthalmia, TENM3, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/f016bc4e3a664483bb9d3cde72696856

المؤلفون: Lu Xu, Youfeng Zhou, Xiaoyan Ren, Chenlu Xu, Rongna Ren, Xuke Yan, Xuelian Li, Huimin Yang, Xuebin Xu, Xiaotong Guo, Guoxia Sheng, Yi Hua, Zhefeng Yuan, Shugang Wang, Weiyue Gu, Dan Sun, Feng Gao

المصدر: Frontiers in Molecular Neuroscience, Vol 15 (2022)

مصطلحات موضوعية: ARFGEF1, mutation spectrum, data lake, whole-exome sequencing, neurodevelopmental delay, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2022.862096/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/7a8787d4bee649b2bb08279334464fef

المؤلفون: Yuhong Ye, Jingjing Wang, Xiaofang Quan, Ke Xu, Haidong Fu, Weiyue Gu, Jianhua Mao

المصدر: BMC Nephrology, Vol 21, Iss 1, Pp 1-5 (2020)

مصطلحات موضوعية: Dent disease 1, CLCN5, Turner syndrome, I(X)(q10), LMWP, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12882-020-01827-4; https://doaj.org/toc/1471-2369

URL الوصول: https://doaj.org/article/085a7f534654469e9c5679fbeb3bfb6c

المؤلفون: Hua Wang, Jiatong Liu, Fuwei Li, Ziteng Teng, Mingyu Liu, Weiyue Gu

المصدر: Frontiers in Genetics, Vol 13 (2022)

مصطلحات موضوعية: GRIA4, NEDSGA, neurodevelopmental disorder, trio-whole exome sequencing, novel heterozygous missense variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2022.859140/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/99fca9d536414e3aad8e6f8496b09a00

المؤلفون: Meigui Han, Min Peng, Ziming Han, Xiaojuan Zhu, Qian Huang, Weiyue Gu, Yong Guo

المصدر: Frontiers in Pediatrics, Vol 10 (2022)

مصطلحات موضوعية: isolated hyperchloridrosis, CA12 gene, dehydration, hyponatremia, hypochloremia, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.820707/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/5e670bcb11344e77a3eac7ec2e55601e

المؤلفون: Li Shu, Neng Xiao, Jiong Qin, Qi Tian, Yanghui Zhang, Haoxian Li, Jing Liu, Qinrui Li, Weiyue Gu, Pengchao Wang, Hua Wang, Xiao Mao

المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2022)

مصطلحات موضوعية: MAST3, genetics, neurodevelopmental, epilepsy, domain, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnmol.2021.775479/full; https://doaj.org/toc/1662-5099

URL الوصول: https://doaj.org/article/032710e7444747878331450ce610edc0

المؤلفون: Bingbo Zhou, Chuan Zhang, Lei Zheng, Zhiqiang Wang, Xue Chen, Xuan Feng, Qinghua Zhang, Shengju Hao, Liwan Wei, Weiyue Gu, Ling Hui

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: GRIA2 gene, case report, neurodevelopmental disorder, language impairment, behavioral abnormalities, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.794766/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/afb0017971ea4aa8a75e9fa9af8fc0b1