Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a novel splice site ALS2 v... von Zhang, Qiang, Yang, Qi, Luo, Jingsi, Zhou, Xunzhao, Yi, Shang, Tan, Shuyin, Qin, Zailong

Volltext

Whole-exome sequencing identified a novel heterozygous variant in UBAP2L in a Chinese family with neurodevelopmental disorder characterized by impaired language, behavioral abnorma... von Yang, Qi, Zhang, Qiang, Zhou, Xunzhao, Feng, Juntan, Zhang, Shujie, Lin, Li, Yi, Shang, Qin, Zailong, Luo, Jingsi

Volltext

Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2 von Yang, Qi, Zhang, Qiang, Yi, Sheng, Zhang, Shujie, Yi, Shang, Zhou, Xunzhao, Qin, Zailong, Chen, Biyan, Luo, Jingsi

Volltext

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene von Zhang, Qiang, Yang, Qi, Zhou, Xunzhao, Qin, Zailong, Yi, Shang, Luo, Jingsi

Volltext

Clinical and genetic analysis of trichohepatoneurodevelopmental syndrome caused by a CCDC47 variant von Yang, Qi, Zhou, Xunzhao, Ling, Yeying, Zhang, Qiang, Yi, Shang, Chen, Qiuli, Zhang, Shujie, Qin, Zailong, Luo, Jingsi

Volltext

Novel variants in TNRC6B cause global developmental delay with speech and behavioral abnormalities, short stature, low body weight, café‐au‐lait spots, and metabolic abnormality... von Yang, Qi, Ou, Shan, Zhou, Xunzhao, Yi, Sheng, Lin, Li, Yi, Shang, Zhang, Shujie, Qin, Zailong, Luo, Jingsi

Volltext

Novel loss-of-function variants in WDR26 cause Skraban-Deardorff syndrome in two Chinese patients von Yang, Qi, Zhou, Xunzhao, Yi, Sheng, Li, XiaoLing, Zhang, Qiang, Zhang, Shujie, Lin, Li, Yi, Shang, Chen, Biyan, Qin, Zailong, Luo, Jingsi

Volltext

Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene von Yi, Sheng, Qin, Zailong, Zhou, Xunzhao, Chen, Junjie, Yi, Shang, Chen, Qiuli, Huang, Limei, Zhang, Qinle, Chen, Biyan, Luo, Jingsi

Volltext

Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations von Yi, Sheng, Zhang, Xiaofei, Yang, Qi, Huang, Jingjing, Zhou, Xunzhao, Qian, Jiale, Pan, Pingshan, Yi, Shang, Zhang, Shujie, Zhang, Qiang, Tang, Xianglian, Huang, Limei, Zhang, Qinle, Qin, Zailong, Luo, Jingsi

Volltext

Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement von Su, Jiasun, Lu, Weiliang, Li, Mengting, Zhang, Qiang, Chen, Fei, Yi, Shang, Yang, Qi, Yi, Sheng, Zhou, Xunzhao, Huang, Limei, Shen, Yiping, Luo, Jingsi, Qin, Zailong

Volltext

Association of the rs1760944 polymorphism in the APEX1 base excision repair gene with risk of nasopharyngeal carcinoma in a population from an endemic area in South China von Lu, Zhifang, Li, Sisi, Ning, Sisi, Yao, Mengwei, Zhou, Xunzhao, Wu, Yuan, Zhong, Changtao, Yan, Kui, Wei, Zhengbo, Xie, Ying

Volltext

Association of polymorphisms hOGG1 rs1052133 and hMUTYH rs3219472 with risk of nasopharyngeal carcinoma in a Chinese population von Xie, Ying, Wu, Yuan, Zhou, Xunzhao, Yao, Mengwei, Ning, Sisi, Wei, Zhengbo

Volltext

The Association of Single-Nucleotide Polymorphism rs13181 in ERCC2 with Risk and Prognosis of Nasopharyngeal Carcinoma in an Endemic Chinese Population von Wei, Zhengbo, Yao, Mengwei, Ning, Sisi, Wu, Yuan, Zhou, Xunzhao, Zhong, Changtao, Yan, Kui, Xie, Ying

Volltext

Association of Single-Nucleotide Polymorphisms in DC-SIGN with Nasopharyngeal Carcinoma Susceptibility von Wei, Zhengbo, Xie, Ying, Zhong, Changtao, Zhou, Xunzhao, Wu, Yuan, Ning, Sisi, Yao, Mengwei, Lu, Zhifang, Li, Sisi, Yan, Kui

Volltext

Association of polymorphisms hOGGI rs1052133 and hMUTYH rs3219472 with risk of nasopharyngeal carcinoma in a Chinese population von Xie, Ying, Wu, Yuan, Zhou, Xunzhao, Yao, Mengwei, Ning, Sisi, Wei, Zhengbo

Volltext

Correlation of variable repeat number in the neck regions of DC-SIGN and DC-SIGNR with susceptibility to nasopharyngeal carcinoma in a Chinese population von Ning, Sisi, Yao, Mengwei, Wu, Yuan, Zhou, Xunzhao, Zhong, Changtao, Yan, Kui, Wei, Zhengbo, Xie, Ying

Volltext

Additional file 1 of Clinical features and molecular genetic investigation of infantile-onset ascending hereditary spastic paralysis (IAHSP) in two Chinese siblings caused by a nov... von Zhang, Qiang, Yang, Qi, Luo, Jingsi, Zhou, Xunzhao, Yi, Shang, Tan, Shuyin, Qin, Zailong

Volltext bestellen

Remote service interface calling method based on explicit and implicit parameter registration von ZHU XIANGYING, WANG DONG, WANG YANYAN, ZHOU XUNZHAO, CHEN PENG

Volltext bestellen

Question and answer reasoning method for solving comparison type problems in text data von WANG DONG, CHEN WENYING, ZHOU XUNZHAO, WANG YANYAN, CHEN PENG

Volltext bestellen

Knowledge graph construction method based on deep reinforcement learning von ZHU XIANGYING, WANG YANYAN, ZHOU XUNZHAO, CHEN PENG, SU ZHONGQIU

Volltext bestellen