CORC

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CORC

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EXPLORING THE NEURODEVELOPMENTAL TRAJECTORY AND MODIFIER GENE OF 16P11.2 MICRODELETION USING INTRA AND INTER-FAMILY CARRIERS 会议论文
EUROPEAN NEUROPSYCHOPHARMACOLOGY, 2019-01-01
作者:  Liang, Chen;  Xie, Hua;  Liu, Fang;  Wu, Nan;  Zhang, Yu
收藏  |  浏览/下载：8/0  |  提交时间：2020/01/03
EXPLORING THE NEURODEVELOPMENTAL TRAJECTORY AND MODIFIER GENE OF 16P11.2 MICRODELETION USING INTRA AND INTER-FAMILY CARRIERS 期刊论文
2019, 卷号: 29, 页码: 1199-1199
作者:  Liang, Chen;  Xie, Hua;  Liu, Fang;  Wu, Nan;  Zhang, Yu
收藏  |  浏览/下载：9/0  |  提交时间：2020/01/03
A complex intragenic rearrangement of ERCC8 lein Chinese siblings with Cockayne syndrome 期刊论文
SCIENTIFIC REPORTS, 2017, 卷号: 7
作者:  Xie, Hua;  Li, Xiaoyan;  Peng, Jiping;  Chen, Qian;  Gao, ZhiJie
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/05
Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation 期刊论文
HUMAN MUTATION, 2017, 卷号: 38, 期号: 4
作者:  Chen, Xiaoli;  An, Yu;  Gao, Yonghui;  Guo, Liu;  Rui, Lei
收藏  |  浏览/下载：17/0  |  提交时间：2019/12/05
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies 期刊论文
NATURE GENETICS, 2017, 卷号: 49, 期号: 1
作者:  Redin, Claire;  Brand, Harrison;  Collins, Ryan L.;  Kammin, Tammy;  Mitchell, Elyse
收藏  |  浏览/下载：22/0  |  提交时间：2019/12/05
MolecularanalysisofadeletionhotspotintheNRXN1regionrevealstheinvolvementofshortinvertedrepeatsindeletionCNVs 会议论文
作者:  Chen XL(陈晓丽);  Yiping Shen;  Feng Zhang;  Colby Chiang;  Vamsee Pillalamarri
收藏  |  浏览/下载：5/0  |  提交时间：2019/12/19
Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects 期刊论文
PLOS ONE, 2013, 卷号: 8, 期号: 1
作者:  Chen, Xiaoli;  Shen, Yiping;  Gao, Yonghui;  Zhao, Huizhi;  Sheng, Xiaoming
收藏  |  浏览/下载：3/0  |  提交时间：2019/12/19
Molecular Analysis of a Deletion Hotspot in the NRXN1 Region Reveals the Involvement of Short Inverted Repeats in Deletion CNVs 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 卷号: 92, 期号: 3
作者:  Chen, Xiaoli;  Shen, Yiping;  Zhang, Feng;  Chiang, Colby;  Pillalamarri, Vamsee
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/19
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2013, 卷号: 92, 期号: 2
作者:  Beunders, Gea;  Voorhoeve, Els;  Golzio, Christelle;  Pardo, Luba M.;  Rosenfeld, Jill A.
收藏  |  浏览/下载：19/0  |  提交时间：2019/12/19
Disruption of a Large Intergenic Noncoding RNA in Subjects with Neurodevelopmental Disabilities 期刊论文
AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 卷号: 91, 期号: 6
作者:  Talkowski, Michael E.;  Maussion, Gilles;  Crapper, Liam;  Rosenfeld, Jill A.;  Blumenthal, Ian
收藏  |  浏览/下载：28/0  |  提交时间：2019/12/19

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