Integrative single-cell analysis of transcriptome, DNA methylome and chromatin accessibility in mouse oocytes von Gu, Chan, Liu, Shanling, Wu, Qihong, Zhang, Lin, Guo, Fan

Volltext

Factors Affecting the Fetal Fraction in Noninvasive Prenatal Screening: A Review von Deng, Cechuan, Liu, Shanling

Volltext

Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis von Liu, Xijing, Liu, Shanling, Wang, He, Hu, Ting

Volltext

Enhanced antifungal activity of bovine lactoferrin-producing probiotic Lactobacillus casei in the murine model of vulvovaginal candidiasis von Liao, Hong, Liu, Shanling, Wang, He, Su, Hang, Liu, Zhenjun

Volltext

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansio... von Zhou, Cong, Wei, Xing, Xiao, Yuanyuan, Liu, Shanling, Wang, Jing

Volltext

The clinical performance of fetal sex chromosome abnormalities in serum biochemical screening in the second trimester von Luo, Wei, He, Bin, Han, Daiwen, Yuan, Lixing, Tang, Jun, Pang, Ling, Zhao, Kai, Zou, Fene, Zhu, Qian, Liu, Shanling

Volltext

NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism von Xiao, Yuanyuan, Zhou, Cong, Xie, Hanbing, Huang, Shuang, Wang, Jing, Liu, Shanling

Volltext

Prenatal diagnosis of chromosomal aberrations by chromosomal microarray analysis in foetuses with ventriculomegaly von Wang, Jiamin, Zhang, Zhu, Li, Qinqin, Zhu, Hongmei, Lai, Yi, Luo, Wei, Liu, Shanling, Wang, He, Hu, Ting

Volltext

Analysis of rare thalassemia genetic variants based on third-generation sequencing von Peng, Cuiting, Zhang, Haixia, Ren, Jun, Chen, Han, Du, Ze, Zhao, Tong, Mao, Aiping, Xu, Ruofan, Lu, Yulin, Wang, He, Chen, Xinlian, Liu, Shanling

Volltext

Case report: Genetic diagnoses in a pediatric patient with retinoblastoma and comorbid global developmental delay: three distinct entities diagnosed by whole exome sequencing in a... von Chen, Jing, Yang, Shuo, Wang, He, Wang, Hongjing, Xiao, Yuanyuan, Liu, Shanling

Volltext

Key roles of necroptotic factors in promoting tumor growth von Liu, Xinjian, Zhou, Min, Mei, Ling, Ruan, Jiaying, Hu, Qian, Peng, Jing, Su, Hang, Liao, Hong, Liu, Shanling, Liu, WeiPing, Wang, He, Huang, Qian, Li, Fang, Li, Chuan-Yuan

Volltext

Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder von Chen, Jing, Yang, Shuo, Wang, He, Wang, Hongjing, Xiao, Yuanyuan, Liu, Shanling

Volltext

Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delay von Yu, Bingxuan, Chen, Jing, Yang, Shuo, Wang, He, Xiao, Yuanyuan, Liu, Shanling

Volltext

A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation von Peng, Cuiting, Chen, Han, Ren, Jun, Zhou, Fan, Li, Yutong, Keqie, Yuezhi, Ding, Taoli, Ruan, Jiangxing, Wang, He, Chen, Xinlian, Liu, Shanling

Volltext

Clinical strategy study on prenatal screening and diagnostic model for Down syndrome von Luo, Wei, Liu, Sha, He, Bin, Han, Daiwen, Yuan, Lixing, Zhao, Kai, Tang, Jun, Pang, Ling, Zou, Fene, Liu, Jianlong, Liu, Hongqian, Bai, Ting, Jing, Xiaosha, Xia, Tianyu, Deng, Cechuan, Liu, Yunyun, Cheng, Jing, Wei, Xiang, Xing, Lingling, Luo, Yuan, Zhou, Quanfang, Zhu, Qian, Liu, Shanling

Volltext

Natural phytochemicals prevent side effects in BRCA -mutated ovarian cancer and PARP inhibitor treatment von Wang, Chuanlin, Gao, Pengning, Xu, Jiali, Liu, Shanling, Tian, Wenda, Liu, Jiayu, Zhou, Lan

Volltext

Case report: A novel de novo deletion mutation of DYRK1A is associated with intellectual developmental disorder, autosomal dominant 7 von Zhou, Cong, Zhu, Hongmei, Xiang, Qinqin, Mai, Jingqun, Wang, Xihan, Wang, Jing, Liu, Shanling

Volltext

The risk factors of procedure-related complications after amniocentesis in twin pregnancies: a retrospective analysis von Liu, Xijing, Wang, Jiamin, Luo, Wanying, Wang, Qiyi, Liu, Zhushu, Wang, He, Liu, Shanling, Hu, Ting

Volltext

Expression of ITPR2 regulated by lncRNA-NONMMUT020270.2 in LPS-stimulated HT22 cells von Liu, Lan, Tang, Liang, Wang, Yan, Liu, Shanling, Zhang, Yongcang

Volltext

A novel deletion mutation in the BCOR gene is associated with oculo-facio-cardio-dental syndrome: a case report von Hu, Qian, Mai, Jingqun, Xiang, Qinqin, Zhou, Bin, Liu, Shanling, Wang, Jing

Volltext