CORC

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CORC

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A rare mosaic 22q11.2 microdeletion identified in a Chinese family with recurrent fetal conotruncal defects 期刊论文
MOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 卷号: 7, 期号: 8
作者:  Sheng, Wei;  Li, Xiaodi;  Sun, Liqun;  Huang, Guoying;  Chen, Weicheng
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/05
A novel deletion with two pathogenic variants of UGT1A1 causing Crigler-Najjar syndrome in two unrelated Chinese 期刊论文
CLINICAL BIOCHEMISTRY, 2019, 卷号: 71
作者:  Li, Wanxing;  Yang, Lin;  Zhou, Wenhao;  Zhou, Youyou
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/05
Non-invasive Prenatal Diagnosis of Chromosomal Aneuploidies and Microdeletion Syndrome Using Fetal Nucleated Red Blood Cells Isolated by Nanostructure Microchips 期刊论文
THERANOSTICS, 2018, 卷号: 8, 期号: 5
作者:  Feng, Chun;  He, Zhaobo;  Cai, Bo;  Peng, Jianhong;  Song, Jieping
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/05
Familial intellectual disability as a result of a derivative chromosome 22 originating from a balanced translocation (3;22) in a four generation family 期刊论文
MOLECULAR CYTOGENETICS, 2018, 卷号: 11
作者:  Zhang Kaihui;  Huang Yan;  Dong Rui;  Yang Yali;  Wang Ying
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/11
High-resolution single nucleotide polymorphism arrays identified an atypical microdeletion of the Williams-Beuren syndrome interval in a patient presenting with a different phenotype 期刊论文
Molecular Medicine Reports, 2017, 卷号: 15, 期号: 5, 页码: 2709-2712
作者:  Hu, Shijun;  Yang, Yifeng;  Liu, Lin;  Tan, Zhiping;  Zhao, Tianli*
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/03
De novo GLI3 mutation in esophageal atresia: Reproducing the phenotypic spectrum of Gli3 defects in murine models 期刊论文
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 2014, 卷号: 1842, 期号: 9, 页码: 1755-1761
Yang, L; Shen, C; Mei, M; Zhan, GD; Zhao, YK; Wang, HJ; Huang, GY; Qiu, ZL; Lu, WN; Zhou, WH
收藏  |  浏览/下载：39/0  |  提交时间：2014/12/15
Male infertility in Northeast China: molecular detection of Y chromosome microdeletions in azoospermic patients with Klinefelter"s syndrome 期刊论文
GENETICS AND MOLECULAR RESEARCH, 2013, 卷号: 12, 期号: 4
作者:  Zhang, H. -G.;  Zhang, Z. -B.;  Wang, R. -X.;  Yu, Y.;  Yu, X. -W.
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/05
A 1.1Mb deletion in distal 13q deletion syndrome region with congenital heart defect and postaxial polydactyly: Additional support for a CHD locus at distal 13q34 region 期刊论文
Gene, 2013, 卷号: 528, 期号: 1, 页码: 51-54
作者:  Yang, Yi-Feng;  Ai, Qi;  Huang, Can;  Chen, Jin-Lan;  Wang, Jian
收藏  |  浏览/下载：13/0  |  提交时间：2019/12/03
Congenital heart defect and mental retardation in a patient with a 13q33.1-34 deletion 期刊论文
Gene, 2012, 卷号: 498, 期号: 2, 页码: 308-310
作者:  Huang, Can;  Yang, Yi-Feng;  Yin, Ni;  Chen, Jin-Lan;  Wang, Jian
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/03
The Essential Role of Mbd5 in the Regulation of Somatic Growth and Glucose Homeostasis in Mice 期刊论文
PLOS ONE, 2012, 卷号: 7, 期号: 10, 页码: e47358-e47358
作者:  Du, YR;  Liu, B;  Guo, F;  Xu, GF;  Ding, YQ
收藏  |  浏览/下载：12/0  |  提交时间：2015/07/22

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