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CORC

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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency 期刊论文
BIOMED RESEARCH INTERNATIONAL, 2019, 页码: 7
作者:  Zhao, Mei;  Hou, Lingling;  Teng, Huajing;  Li, Jinchen;  Wang, Jiesi
收藏  |  浏览/下载：59/0  |  提交时间：2019/06/12
Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family. 期刊论文
Molecular medicine reports, 2019
作者:  Jiangxia Cao;  Ruiqin Shen;  Wenqian Zhang;  Bing Mao;  Qirong Shi
收藏  |  浏览/下载：18/0  |  提交时间：2019/12/17
Hereditary brain tumor with a homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome 期刊论文
2019, 卷号: 18, 期号: 2, 页码: 261-265
作者:  Baig, Shahid Mahmood;  Fatima, Ambrin;  Tariq, Muhammad;  Khan, Tahir Naeem;  Ali, Zafar
收藏  |  浏览/下载：30/0  |  提交时间：2020/01/03
A study on the stable inheritance of chromosome aberration karyotype in three families of two generations in Hainan province 期刊论文
ASIAN PACIFIC JOURNAL OF TROPICAL MEDICINE, 2018, 卷号: 11, 期号: 10
作者:  Chen, Yun-chun;  Hu, Jian-dong;  Chen, Xin-ping;  Xu, Yu-ni;  Cao, Xiao-qiang
收藏  |  浏览/下载：4/0  |  提交时间：2019/12/05
Chromosomal translocations detected by prenatal and postnatal genetic diagnosis: our experience 期刊论文
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL MEDICINE, 2017, 卷号: 10, 期号: 7
作者:  Li, Leilei;  Wang, Ruixue;  Yu, Yang;  Xi, Qi;  Liu, Min
收藏  |  浏览/下载：6/0  |  提交时间：2019/12/05
A multicenter study of fetal chromosomal abnormalities in Chinese women of advanced maternal age 期刊论文
2016, 卷号: 55, 期号: 3, 页码: 379-384
作者:  Zhu, Yuning;  Lu, Shiming;  Bian, Xuming;  Wang, He;  Zhu, Baosheng
收藏  |  浏览/下载：6/0  |  提交时间：2020/01/04
Clinical and cytogenetic results of a series of amniocentesis cases from Northeast China: a report of 2500 cases 期刊论文
GENETICS AND MOLECULAR RESEARCH, 2015, 卷号: 14, 期号: 4
作者:  An, N.;  Li, L. L.;  Wang, R. X.;  Li, L. L.;  Yue, J. M.
收藏  |  浏览/下载：8/0  |  提交时间：2019/12/05
Changes in and Efficacies of Indications for Invasive Prenatal Diagnosis of Cytogenomic Abnormalities: 13 Years of Experience in a Single Center 期刊论文
MEDICAL SCIENCE MONITOR, 2015, 卷号: 21, 页码: 1942-1948
作者:  Meng, Jinlai;  Matarese, Chelsea;  Crivello, Julianna;  Wilcox, Katherine;  Wang, Dongmei
收藏  |  浏览/下载：2/0  |  提交时间：2019/12/17
Genetic counseling, prenatal screening and diagnosis of Down syndrome in the second trimester in women of advanced maternal age: a prospective study 期刊论文
2013, 卷号: 126, 期号: 11, 页码: 2007-2010
作者:  Qi Qing-wei;  Jiang Yu-lin;  Zhou Xi-ya;  Liu Jun-tao;  Yin Jie
收藏  |  浏览/下载：3/0  |  提交时间：2020/01/13

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