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CORC

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Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome 期刊论文
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, 2019, 卷号: 42, 期号: 6, 页码: 653-665
作者:  Zhong, F.;  Ying, H.;  Jia, W.;  Zhou, X.;  Zhang, H.
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Identification of a novel mutation of FGFR3 gene in a large Chinese pedigree with hypochondroplasia by next-generation sequencing A case report and brief literature review 期刊论文
MEDICINE, 2019, 卷号: 98, 期号: 4
作者:  Yao, Guixiang;  Wang, Guangxin;  Wang, Dawei;  Su, Guohai
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/11
Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3 ' Untranslated Region Mutation of COL4A1 Gene 期刊论文
STROKE, 2019, 卷号: 50, 期号: 9, 页码: 2307-2313
作者:  Zhao, Yu-Ying;  Duan, Ruo-Nan;  Ji, Lin;  Liu, Qi-Ji;  Yan, Chuan-Zhu
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/11
Characteristics and Follow-Up of 13 pedigrees with Gitelman syndrome 期刊论文
Journal of Endocrinological Investigation, 2018
作者:  Zhong F.;  Ying H.;  Jia W.;  Zhou X.;  Zhang H.
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/11
Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree 期刊论文
MOLECULAR MEDICINE REPORTS, 2018, 卷号: 17, 期号: 3, 页码: 4265-4272
作者:  Liu, Jia;  Zhang, Xiujuan;  Zhang, Haiqing;  Fang, Li;  Xu, Jin
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2018, 卷号: 6, 期号: 5, 页码: 739-748
作者:  Yang, Junli;  Wang, Qiong;  Zhuo, Qingcui;  Tian, Huiling;  Li, Wen
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Four-Generation Pedigree of Monozygotic Female Twins Reveals Genetic Factors in Twinning Process by Whole-Genome Sequencing 期刊论文
TWIN RESEARCH AND HUMAN GENETICS, 2018, 卷号: 21, 期号: 5, 页码: 361-368
作者:  Liu, Shiqi;  Hong, Yaqiang;  Cui, Kai;  Guan, Jinxia;  Han, Lu
收藏  |  浏览/下载：10/0  |  提交时间：2019/12/11
Haplotype inference for pedigree data using the penalized likelihood method 期刊论文
2017 3rd IEEE International Conference on Computer and Communications, ICCC 2017, 2018, 卷号: 2018-January, 页码: 2685-2688
作者:  Li, Shan;  Shao, Wei;  Zhu, Liping
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
Haplotype Inference for Pedigree Data Using the Penalized Likelihood Method 会议论文
3rd IEEE International Conference on Computer and Communications (ICCC), DEC 13-16, 2017
作者:  Li, Shan;  Shao, Wei;  Zhu, Liping
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/31
A Novel COL10A1 Mutation in a Chinese Pedigree with Schmid Type Metaphyseal Chondrodysplasia 期刊论文
Clinical laboratory, 2015, 期号: 3, 页码: 227-233
作者:  Hu, Xiuhui;  Zhang, Xiaochen;  Li, Yanan;  Lou, Pingping;  Li, Xiaojing
收藏  |  浏览/下载：9/0  |  提交时间：2019/12/17

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