De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth von An, Yu, Zhang, Linna, Liu, Wenwen, Jiang, Yunyun, Chen, Xue, Lan, Xiaoping, Li, Gan, Hang, Qiang, Wang, Jian, Gusella, James F., Du, Yasong, Shen, Yiping

Volltext

PhenoModifier: a genetic modifier database for elucidating the genetic basis of human phenotypic variation von Sun, Hong, Guo, Yangfan, Lan, Xiaoping, Jia, Jia, Cai, Xiaoshu, Zhang, Guoqing, Xie, Jingjing, Liang, Qian, Li, Yixue, Yu, Guangjun

Volltext

Spectrum of RB1 Germline Mutations and Clinical Features in Unrelated Chinese Patients With Retinoblastoma von Lan, Xiaoping, Xu, Wuhen, Tang, Xiaojun, Ye, Haiyun, Song, Xiaozhen, Lin, Longlong, Ren, Xiang, Yu, Guangjun, Zhang, Hong, Wu, Shengnan

Volltext

Two novel heterozygous truncating variants in NR4A2 identified in patients with neurodevelopmental disorder and brief literature review von Song, Xiaozhen, Xu, Wuhen, Xiao, Man, Lu, Yanfen, Lan, Xiaoping, Tang, Xiaojun, Xu, Nanjie, Yu, Guangjun, Zhang, Hong, Wu, Shengnan

Volltext

Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome von Wang, Chunmei, Luo, Xiaona, Wang, Yilin, Liu, Zhao, Wu, Shengnan, Wang, Simei, Lan, Xiaoping, Xu, Quanmei, Xu, Wuhen, Yuan, Fang, Wang, Anqi, Zeng, Fanyi, Jia, Jia, Chen, Yucai

Volltext

Clinical characteristics and identification of novel CNOT1 variants in three unrelated Chinese families with Vissers-Bodmer Syndrome von Tang, Xiaojun, Lan, Xiaoping, Song, Xiaozhen, Xu, Wuhen, Zhang, Yuanfeng, Wang, Simei, Xiao, Man, Yang, Yongchen, Zhang, Hong, Wu, Shengnan

Volltext

Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency von Tang, Xiaojun, Xu, Wuhen, Song, Xiaozhen, Ye, Haiyun, Ren, Xiang, Yang, Yongchen, Zhang, Hong, Wu, Shengnan, Lan, Xiaoping

Volltext

Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy von Sun, Xiaoang, Luo, Xiaona, Lin, Longlong, Wang, Simei, Wang, Chunmei, Yuan, Fang, Lan, Xiaoping, Yan, Jingbin, Chen, Yucai

Volltext

MED12 -Related Disease in a Chinese Girl: Clinical Characteristics and Underlying Mechanism von Wang, Chao, Lin, Longlong, Xue, Yan, Wang, Yilin, Liu, Zhao, Ou, Zicheng, Wu, Shengnan, Lan, Xiaoping, Zhang, Yuanfeng, Yuan, Fang, Luo, Xiaona, Wang, Chunmei, Xi, Jiaming, Sun, Xiaomin, Chen, Yucai

Volltext

Phenotypes and genetic etiology of spontaneous polycystic kidney and liver disease in cynomolgus monkey von Wu, Ruo, Bai, Bing, Li, Feng, Bai, Raoxian, Zhuo, Yan, Zhu, Zhengna, Jia, Rongfang, Li, Shangang, Chen, Yongchang, Lan, Xiaoping

Volltext

De novo variants in WDR45 underlie beta‐propeller protein‐associated neurodegeneration in five independent families von Tang, Xiaojun, Lan, Xiaoping, Song, Xiaozhen, Xu, Wuhen, Zhang, Yuanfeng, Zhang, Hong, Wu, Shengnan

Volltext

Two heterozygous mutations in the calcium/calmodulin‐dependent serine protein kinase gene (CASK) in cases with developmental disorders von Yang, Kunfang, Lin, Longlong, Yuan, Fang, Li, Xiaoguang, Liu, Zhiping, Lan, Xiaoping, Wang, Yilin, Ren, Yun, Li, Jiaoyan, Chen, Yucai

Volltext

Generation and characterization of an iPSC line (SHCMDLi001-A) from a 12-year-old Chinese Han patient with TRAF7 syndrome and of an iPSC line (SHCMDLi002-A) from a control individu... von Song, Xiaozhen, Feng, Jincai, Lan, Xiaoping, Tang, Xiaojun, Xu, Wuhen, Shen, Jun, Yu, Guangjun, Jia, Jia, Zhang, Hong, Lu, Qing, Wu, Shengnan

Volltext

Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms von Luo, Xiaona, Sun, Xiaoang, Wang, Yilin, Lin, Longlong, Yuan, Fang, Wang, Simei, Zhang, Wenjing, Ji, Xiaobing, Liu, Meiyan, Wu, Shengnan, Lan, Xiaoping, Zhang, Jie, Yan, Jingbin, Zeng, Fanyi, Chen, Yucai

Volltext

Novel Truncating and Missense Variants in SEMA6B in Patients With Early-Onset Epilepsy von Xiaozhen, Song, Fan, Yuan, Fang, Yuan, Xiaoping, Lan, Jia, Jia, Wuhen, Xu, Xiaojun, Tang, Jun, Shen, Yucai, Chen, Hong, Zhang, Guang, He, Shengnan, Wu

Volltext

Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases von Liu, Meiyan, Sun, Xiaoang, Lin, Longlong, Luo, Xiaona, Wang, Simei, Wang, Chunmei, Zhang, Yuanfeng, Xu, Quanmei, Xu, Wuhen, Wu, Shengnan, Lan, Xiaoping, Chen, Yucai

Volltext

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene von Luo, Xiaona, Wang, Chunmei, Lin, Longlong, Yuan, Fang, Wang, Simei, Wang, Yilin, Wang, Anqi, Wang, Chao, Wu, Shengnan, Lan, Xiaoping, Xu, Quanmei, Yin, Rongrong, Cheng, Hongyi, Zhang, Yuanfeng, Xi, Jiaming, Zhang, Jie, Sun, Xiaomin, Yan, Jingbin, Zeng, Fanyi, Chen, Yucai

Volltext

A de novo MAPRE2 variant in a patient with congenital symmetric circumferential skin creases type 2 von Feng, Jincai, Lan, Xiaoping, Shen, Jun, Song, Xiaozhen, Tang, Xiaojun, Xu, Wuhen, Ren, Xiang, Zhang, Hong, Yu, Guangjun, Wu, Shengnan

Volltext

Microplastic bioaccumulation in estuary-caught fishery resource von Li, Zhenling, Chao, Min, He, Xiaokang, Lan, Xiaoping, Tian, Chenhao, Feng, Chenghong, Shen, Zhenyao

Volltext

Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations von Sun, Hong, Lan, Xiaoping, Ma, Liangxiao, Zhou, Junmei

Volltext