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CORC

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A de novo mutation in DHD domain of SKI causing spina bifida with no craniofacial malformation or intellectual disability 期刊论文
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2019, 卷号: 179, 期号: 6
作者:  Zhang, Ling;  Xu, Ximing;  Sun, Kaiqiang;  Sun, Jingchuan;  Wang, Yuan
收藏  |  浏览/下载：26/0  |  提交时间：2019/12/05
Natural history of renal tumours in von Hippel-Lindau disease: a large retrospective study of Chinese patients 期刊论文
JOURNAL OF MEDICAL GENETICS, 2019, 卷号: 56, 期号: 6
作者:  Peng, Xiang;  Chen, Jinchao;  Wang, Jiangyi;  Peng, Shuanghe;  Liu, Shengjie
收藏  |  浏览/下载：28/0  |  提交时间：2019/12/05
Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report 期刊论文
BMC MEDICAL GENETICS, 2019, 卷号: 20
作者:  Li, Guo-min;  Liu, Hai-mei;  Guan, Wan-zhen;  Xu, Hong;  Wu, Bing-bing
收藏  |  浏览/下载：30/0  |  提交时间：2019/12/05
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants 期刊论文
BMC MEDICAL GENETICS, 2019, 卷号: 20
作者:  Chen, Xiang;  Yan, Kai;  Gao, Yanyan;  Wang, Huijun;  Chen, Guoqiang
收藏  |  浏览/下载：24/0  |  提交时间：2019/12/05
Novel homozygous CFAP69 mutations in humans and mice cause severe asthenoteratospermia with multiple morphological abnormalities of the sperm flagella 期刊论文
JOURNAL OF MEDICAL GENETICS, 2019, 卷号: 56, 期号: 2
作者:  He, Xiaojin;  Li, Weiyu;  Wu, Huan;  Lv, Mingrong;  Liu, Wangjie
收藏  |  浏览/下载：39/0  |  提交时间：2019/12/05
The association between interleukin-6 gene-174G/C single nucleotide polymorphism and sepsis: an updated meta-analysis with trial sequential analysis 期刊论文
BMC MEDICAL GENETICS, 2019, 卷号: 20
作者:  Chen, Yao;  Hu, Yanyan;  Song, Zhenju
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
Mutations in NLRP2 and NLRP5 cause female infertility characterised by early embryonic arrest 期刊论文
JOURNAL OF MEDICAL GENETICS, 2019, 卷号: 56, 期号: 7
作者:  Mu, Jian;  Wang, Wenjing;  Chen, Biaobang;  Wu, Ling;  Li, Bin
收藏  |  浏览/下载：15/0  |  提交时间：2019/12/05
Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia 期刊论文
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 卷号: 62, 期号: 3
作者:  Wang, Zhangyang;  Lin, Jie;  Qiao, Kai;  Cai, Shuang;  Zhang, Victor W.
收藏  |  浏览/下载：12/0  |  提交时间：2019/12/05
CRB2 mutation causes autosomal recessive retinitis pigmentosa 期刊论文
EXPERIMENTAL EYE RESEARCH, 2019, 卷号: 180
作者:  Sun, Ruxu;  Chen, Xue;  Jiang, Chao;  Yang, Daidi;  Wang, Min
收藏  |  浏览/下载：22/0  |  提交时间：2019/12/05
The identification and characterization of the p.G91 deletion in CRYBA1 in a Chinese family with congenital cataracts 期刊论文
BMC MEDICAL GENETICS, 2019, 卷号: 20, 期号: 1
作者:  Li, Dan;  Jing, Qinghe;  Jiang, Yongxiang
收藏  |  浏览/下载：7/0  |  提交时间：2019/12/05

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