DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

Get full text

Identification of a Mutation in the Novel Compound Heterozygous CFTR in a Chinese Family with Cystic Fibrosis by Hongxia Shao, Jingna Hua, Qi Wu, Xiaoge Li, Ming Zhang, Herong Wang, Junping Wu, Long Xu, Yi Xie, Li Li, Huaiyong Chen

Get full text

A Novel p.G141R Mutation in ILDR1 Leads to Recessive Nonsyndromic Deafness DFNB42 in Two Chinese Han Families by Xueling Wang, Longhao Wang, Hu Peng, Tao Yang, Hao Wu

Get full text

Pedestrian trajectory prediction method based on group perception by WANG Ruyan, ZHOU Yudie, WU Dapeng, DUAN Ang, CUI Yaping, HE Peng

Get full text

New Insights into the Mechanisms of Chinese Herbal Products on Diabetes: A Focus on the “Bacteria-Mucosal Immunity-Inflammation-Diabetes” Axis by Zezheng Gao, Qingwei Li, Xuemin Wu, Xuemin Zhao, Linhua Zhao, Xiaolin Tong

Get full text

RNF43 Mutations in IPMN Cases: A Potential Prognostic Factor by Xiao Yan Chang, Yan Wu, Ying Jiang, Peng Yan Wang, Jie Chen

Get full text

Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular Dystrophy by Xike Wang, Yue Wu, Yuxia Cui, Nan Wang, Lasse Folkersen, Yuchuan Wang

Get full text

A Nonsynonymous Single-nucleotide Polymorphism in SLC24A5 Regulates Feather Pigment Deposition in Chinese Yellow Quail by Xiaohui Zhang, Fanghu Wu, Yanxia Qi, Yuanyuan Shang, Lingyun Fan, Yifei Wang

Get full text

Study on Management of Blood Transfusion Therapy in Patients with Hereditary Spherocytosis by Shiyue Ma, Lingjian Tang, Chaoli Wu, Hui Tang, Xue Pu, Jinhong Niu

Get full text

Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene by Biao Zhang, Xiao-li Huang, Xin-xin Lu, Heng-bin Huang, Yan-an Wu

Get full text

A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family by Yu Zhou, Yaru Zhai, Lulin Huang, Bo Gong, Jie Li, Fang Hao, Zhengzheng Wu, Yi Shi, Yin Yang

Get full text

Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester by Huanyun Li, Shaojun Li, Zhenhua Zhao, Lingrong Kong, Xinyu Fu, Jingqi Zhu, Jun Feng, Weiqin Tang, Di Wu, Xiangdong Kong

Get full text

A Novel Pathogenic Splicing Mutation of OFD1 is Responsible for a Boy with Joubert Syndrome Exhibiting Orofaciodigital Spectrum Anomalies, Polydactyly and Retinitis Pigmentosa by Chen L, Zhao MF, Deng HW, Liao M, Fan LL, Zhong QB, Wang J, Li K, Wu ZH, Yin JY

“…Whole exome sequencing and Sanger sequencing revealed a splicing mutation (NM_003611.2, c.2387+1G>A) in the OFD1 gene of the patient and his mother. mRNA sequencing further confirmed this mutation. …”
Get full text

Identification of quality markers and mechanisms of Anzi Tiaochong Fang in the treatment of antiphospholipid syndrome-related recurrent pregnancy loss: chemical analysis, network p... by Shan He, Fei Ma, Jia Li, Da-yan Liu, Zhi-wei Wang, Peng-dian Chen, Jia-man Wu, Hong Chang, Yan Ning

Get full text

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis by Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu

Get full text

CircUCK2(2,3) promotes cancer progression and enhances synergistic cytotoxicity of lenvatinib with EGFR inhibitors via activating CNIH4–TGFα–EGFR signaling by Xindong Wei, Anfeng Si, Shuai Zhao, Yi Fu, Jilei Li, Kedeerya Aishanjiang, Yujie Ma, Chang Yu, Bo Yu, Chunhong Cui, Hui Wang, Xianming Kong, Shibo Li, Xiaoni Kong, Ying Tong, Hailong Wu

Get full text

Collection of SARS-CoV-2 Virus from the Air of a Clinic within a University Student Health Care Center and Analyses of the Viral Genomic Sequence by John A. Lednicky, Sripriya N. Shankar, Maha A. Elbadry, Julia C. Gibson, Md. Mahbubul Alam, Caroline J. Stephenson, Arantzazu Eiguren-Fernandez, J. Glenn Morris, Carla N. Mavian, Marco Salemi, James R. Clugston, Chang-Yu Wu

Get full text

Detection of BRAF V600E in Fine-Needle Aspiration Samples of Thyroid Nodules by Droplet Digital PCR by Sang-Yu Lu, Ying-Chao Chen, Jia-Lin Feng, Qin-Yi Zhou, Jing Chen, Chen-Fang Zhu, Miao-Miao Guo, Man-Man Zhang, Qian-Yue Zhang, Meng Lu, Liu Yang, Jing Wu, Shuang-Xia Zhao, Huai-Dong Song, Xiao-Ping Ye

Get full text

Short- to Medium-Term Weather Forecast Skill of the AI-Based Pangu-Weather Model Using Automatic Weather Stations in China by Siyi Xu, Yize Zhang, Junping Chen, Yunlong Zhang

“…Furthermore, the more recent FuXi and FengWu models were included in the analysis to further validate Pangu’s forecasting skill. …”
Get full text