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CORC

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Identification and Fine Mapping of the Recessive Gene BK-5, Which Affects Cell Wall Biosynthesis and Plant Brittleness in Maize 期刊论文
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 卷号: 23, 期号: 2
作者:  Li, Qigui;  Nie, Shujun;  Li, Gaoke;  Du, Jiyuan;  Ren, Ruchang
收藏  |  浏览/下载：0/0  |  提交时间：2024/03/07
Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development 期刊论文
CELLULAR AND MOLECULAR LIFE SCIENCES, 2019, 卷号: 76, 期号: 1, 页码: 163-178
作者:  Tian, Jing;  Shao, Jinhui;  Liu, Cong;  Hou, Hsin-Yu;  Chou, Chih-Wei
收藏  |  浏览/下载：66/0  |  提交时间：2019/07/01
Identification and functional characterization of a novel missense mutation in FRMD7 responsible for idiopathic congenital nystagmus 期刊论文
ACTA BIOCHIMICA ET BIOPHYSICA SINICA, 2019, 卷号: 51, 期号: 2
作者:  Wang, Min;  Lu, Boyang;  Wang, Zhe;  Wang, Chengyan
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification 期刊论文
Brain & Development, 2019, 卷号: Vol.41 No.1, 页码: 29-35
作者:  Shi, Chang-he;  Zhang, Shuo;  Yang, Zhi-hua;  Liu, Yu-tao;  Li, Yu-sheng
收藏  |  浏览/下载：1/0  |  提交时间：2019/12/17
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification. 期刊论文
Brain & Development, 2019, 卷号: Vol.41 No.1, 页码: 29-35
作者:  Shi, Chang-he;  Zhang, Shuo;  Yang, Zhi-hua;  Liu, Yu-tao;  Li, Yu-sheng
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/17
A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome 期刊论文
2019, 卷号: 132, 期号: 14, 页码: 1755-1757
作者:  Yu, Xue;  Wang, Rong-Rong;  Han, Shi-Rui;  Bai, Xiao;  Habulieti, Xiaerbati
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/03
A novel heterozygous missense mutation of DSP in a Chinese Han pedigree with palmoplantar keratoderma 期刊论文
2019, 卷号: 18, 期号: 1, 页码: 371-376
作者:  Xue, Ke;  Zheng, Yajie;  Cui, Yong
收藏  |  浏览/下载：2/0  |  提交时间：2020/01/03
A novel MAF missense mutation leads to congenital nuclear cataract by impacting the transactivation of crystallin and noncrystallin genes 期刊论文
2019, 卷号: 692, 页码: 113-118
作者:  Si, Nuo;  Song, Zixun;  Meng, Xiaolu;  Li, Xinru;  Xiao, Wei
收藏  |  浏览/下载：5/0  |  提交时间：2020/01/03
A novel missense mutation in P4HB causes mild osteogenesis imperfecta 期刊论文
2019, 卷号: 39, 期号: 4
作者:  Li, Lujiao;  Zhao, Dichen;  Zheng, Wenbin;  Wang, Ou;  Jiang, Yan
收藏  |  浏览/下载：10/0  |  提交时间：2020/01/03
Identification of LBX2 as a novel causal gene of atrial septal defect 期刊论文
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2018, 卷号: 265, 期号: 1, 页码: 188-194
作者:  Wang, Jing;  Luo, Jing;  Chenc, Qiuhong;  Wang, Xi;  He, Jiangyan
收藏  |  浏览/下载：52/0  |  提交时间：2019/07/03

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