Integrated Bioinformatics Analysis to Screen Hub Gene Signatures for Fetal Growth Restriction

por Yang, Jingjin, Liu, Yuxin, Dong, Minyue
Publicado 2023

Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene

por Xu, Yuqing, Zhu, Linyan, Qian, Yeqing, Dong, Minyue
Publicado 2023

Case Report: Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet–Biedl Syndrome Type I (BBS1) due to Missense Mutation

por Yan, Kai, Sun, Yixi, Yang, Yanmei, Liu, Bei, Dong, Minyue
Publicado 2022

Case Report: Novel splicing mutations in RFX5 causing MHC class II deficiency

por Chen, Shan, Xu, Yuqing, Qian, Yeqing, Li, Zhaohui, Dong, Minyue
Publicado 2022

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

por Wang, Zhengrong, Xu, Yuqing, Sun, Yixi, Wang, Shuang, Dong, Minyue
Publicado 2023

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis

por Zhu, Linyan, Sun, Yixi, Xu, Yuqing, Jin, Pengzhen, Ding, Huiqing, Dong, Minyue
Publicado 2023

Alteration in methylation level at 11β-hydroxysteroid dehydrogenase type 2 gene promoter in infants born to preeclamptic women

por Hu, Wensheng, Weng, Xiaoling, Dong, Minyue, Liu, Yun, Li, Wenjuan, Huang, Hefeng
Publicado 2014

Case Report: Prenatal Diagnosis of Postaxial Polydactyly With Bi-Allelic Variants in Smoothened (SMO)

por Fan, Lihong, Jin, Pengzhen, Qian, Yeqing, Shen, Guosong, Shen, Xueping, Dong, Minyue
Publicado 2022

Case report: Prenatal diagnosis of Kagami–Ogata syndrome in a Chinese family

por Hu, Junjie, Zhang, Ying, Yang, Yanmei, Wang, Liya, Sun, Yixi, Dong, Minyue
Publicado 2022

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening

por Hu, Junjie, Yan, Kai, Jin, Pengzhen, Yang, Yanmei, Sun, Yixi, Dong, Minyue
Publicado 2022

Case Report: Prenatal diagnosis of fetal tetrasomy 9p initially identified by non-invasive prenatal testing

por Yu, Jialing, Chen, Na, Chen, Min, Shen, Min, Qian, Yeqing, Dong, Minyue
Publicado 2022

Case report: FOXP1 syndrome caused by a de novo splicing variant (c.1652+5 G>A) of the FOXP1 gene

por Chen, Min, Sun, Yixi, Qian, Yeqing, Chen, Na, Li, Hongge, Wang, Liya, Dong, Minyue
Publicado 2022

GDF8 Promotes the Cell Invasiveness in Human Trophoblasts by Upregulating the Expression of Follistatin-Like 3 Through the ALK5-SMAD2/3 Signaling Pathway

por Xie, Jiamin, Zhu, Hua, Chang, Hsun-Ming, Klausen, Christian, Dong, Minyue, Leung, Peter C. K.
Publicado 2020

Heterozygous Deletion of the SHOX Gene Enhancer in two Females With Clinical Heterogeneity Associating With Skewed XCI and Escaping XCI

por Sun, Yixi, Luo, Yuqin, Qian, Yeqing, Chen, Min, Wang, Liya, Li, Hongge, Zou, Yu, Dong, Minyue
Publicado 2019

Non-invasive prenatal screening for Emanuel syndrome

por Luo, Yuqin, Lin, Jie, Sun, Yixi, Qian, Yeqing, Wang, Liya, Chen, Min, Dong, Minyue, Jin, Fan
Publicado 2020

Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

por Chen, Min, Zhang, Min, Qian, Yeqing, Yang, Yanmei, Sun, Yixi, Liu, Bei, Wang, Liya, Dong, Minyue
Publicado 2020

Efficiency of non-invasive prenatal screening in pregnant women at advanced maternal age

por Zhu, Hui, Jin, Xiaoxiao, Xu, Yuqing, Zhang, Weihua, Liu, Xiaodan, Jin, Jinglei, Qian, Yeqing, Dong, Minyue
Publicado 2021

A Novel Homozygous Missense Mutation of PIEZO1 Leading to Lymphatic Malformation-6 Identified in a Family With Three Adverse Pregnancy Outcomes due to Nonimmune Fetal Hydrops

por Han, Shuai, Guo, Xin, Wang, Xiaogang, Lin, Huijun, Yu, Yiqi, Shu, Jing, Dong, Minyue, Yang, Liwei
Publicado 2022

Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors

por Shen, Xueping, Li, Zhi, Pan, Xuekui, Yao, Juan, Shen, Guosong, Zhang, Su, Dong, Minyue, Fan, Lihong
Publicado 2023

Haploinsufficiency of PSMD12 Causes Proteasome Dysfunction and Subclinical Autoinflammation

por Yan, Kai, Zhang, Jiahui, Lee, Pui Y., Tao, Panfeng, Wang, Jun, Wang, Shihao, Zhou, Qing, Dong, Minyue
Publicado 2022