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CORC

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Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques 期刊论文
2019
作者:  Fujinami-Yokokawa, Yu;  Pontikos, Nikolas;  Yang, Lizhu;  Tsunoda, Kazushige;  Yoshitake, Kazutoshi
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/03
Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa 期刊论文
GENETIC TESTING AND MOLECULAR BIOMARKERS, 2018, 卷号: 22, 期号: 2, 页码: 109-114
作者:  Li, Shujin;  Yang, Mu;  Liu, Wenjing;  Liu, Yuqing;  Zhang, Lin
收藏  |  浏览/下载：22/0  |  提交时间：2020/12/24
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 6, 页码: 295-306
作者:  Tang, Jinsong;  Fan, Yu;  Li, Hong;  Xiang, Qun;  Zhang, Deng-Feng
收藏  |  浏览/下载：58/0  |  提交时间：2017/08/07
Identification of novel mutations in hfe, hfe2, tfr2, and slc40a1 genes in chinese patients affected by hereditary hemochromatosis 期刊论文
International journal of hematology, 2017, 卷号: 105, 期号: 4, 页码: 521-525
作者:  Wang, Yongwei;  Du, Yali;  Liu, Gang;  Guo, Shanshan;  Hou, Bo
收藏  |  浏览/下载：28/0  |  提交时间：2019/04/23
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation 期刊论文
MOLECULAR AUTISM, 2017
Wen, Zhu; Cheng, Tian-Lin; Li, Gai-Zhi; Sun, Shi-Bang; Yu, Shun-Ying; Zhang, Yi; Du, Ya-Song; Qiu, Zilong
收藏  |  浏览/下载：117/0  |  提交时间：2017/12/03
Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations 期刊论文
HUMAN MUTATION, 2017
Dou, Yanmei; Yang, Xiaoxu; Li, Ziyi; Wang, Sheng; Zhang, Zheng; Ye, Adam Yongxin; Yan, Linlin; Yang, Changhong; Wu, Qixi; Li, Jiarui; Zhao, Boxun; Huang, August Yue; Wei, Liping
收藏  |  浏览/下载：121/0  |  提交时间：2017/12/03
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures 期刊论文
BMC MEDICAL GENETICS, 2017
Wang, Jiaping; Gao, Hua; Bao, Xinhua; Zhang, Qingping; Li, Jiarui; Wei, Liping; Wu, Xiru; Chen, Yan; Yu, Shujie
收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03
Whole-genome sequencing of monozygotic twins discordant for schizophrenia indicates multiple genetic risk factors for schizophrenia 期刊论文
JOURNAL OF GENETICS AND GENOMICS, 2017, 卷号: 44, 期号: 6, 页码: 295-306
作者:  Tang Jinsong;  Fan Yu;  Li Hong;  Xiang Qun;  Zhang DengFeng
收藏  |  浏览/下载：9/0  |  提交时间：2021/02/02
Next-generation sequencing-based molecular diagnosis of 12 inherited retinal disease probands of Uyghur ethnicity 期刊论文
SCIENTIFIC REPORTS, 2016, 卷号: 6, 期号: 2
作者:  Tajiguli, A (Tajiguli, Abulikemu);  Xu, MC (Xu, Mingchu);  Fu, Q (Fu, Qing);  Yiming, R (Yiming, Rouzimaimaiti);  Wang, KQ (Wang, Keqing)
收藏  |  浏览/下载：60/0  |  提交时间：2016/03/10
Methods for PTEN in Stem Cells and Cancer Stem Cells 期刊论文
Methods in molecular biology (Clifton, N.J.), 2016
Schubbert Suzanne; Jiao Jing; Ruscetti Marcus; Nakashima Jonathan; Wu Shumin; Lei Hong; Xu Qinzhi; Yi Wenkai; Zhu Haichuan; Wu Hong
收藏  |  浏览/下载：5/0  |  提交时间：2017/12/03

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