Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome

por Hei, Mingyan, Gao, Xiangyu, Wu, Lingqian
Publicado 2018

Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children

por Tang, Hui, Guo, Jing, Linpeng, Siyuan, Wu, Lingqian
Publicado 2019

A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

por Hu, Junjie, Liang, Desheng, Xue, Jinjie, Liu, Jing, Wu, Lingqian
Publicado 2011

Development and validation of a haplotype‐free technique for non‐invasive prenatal diagnosis of spinal muscular atrophy

por Wei, Xianda, Lv, Weigang, Tan, Hu, Liang, Desheng, Wu, Lingqian
Publicado 2019

Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa

por Wang, Yihui, Teng, Yanling, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Publicado 2021

Prenatal Diagnosis in a Fetus With X-Linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE

por Zhang, Li, Hu, Haoran, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Publicado 2021

The role of non-invasive prenatal testing and ultrasound in prenatal screening of fetal chromosomal abnormalities in singleton: a retrospective study

por Yuan, Xiying, Yong, Wenjing, Dai, Lei, Wang, Weinan, Wu, Lingqian
Publicado 2023

A novel FOXL2 mutation in a Chinese family with blepharophimosis, ptosis, epicanthus inversus syndrome

por Tan, Hu, Yang, Pu, Li, Haoxian, Pan, Qian, Liang, Desheng, Wu, Lingqian
Publicado 2015

Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

por Yang, Chenxi, Pan, Jianyan, Linpeng, Siyuan, Li, Zhuo, Tan, Hu, Wu, Lingqian
Publicado 2019

Restoration of FVIII Function and Phenotypic Rescue in Hemophilia A Mice by Transplantation of MSCs Derived From F8-Modified iPSCs

por Qiu, Liyan, Xie, Mi, Zhou, Miaojin, Liu, Xionghao, Hu, Zhiqing, Wu, Lingqian
Publicado 2021

Behavioral and Gene Expression Analysis of Stxbp6-Knockout Mice

por Liu, Cong, Hu, Qian, Chen, Yan, Wu, Lingqian, Liu, Xionghao, Liang, Desheng
Publicado 2021

Ectopic Expression of FVIII in HPCs and MSCs Derived from hiPSCs with Site-Specific Integration of ITGA2B Promoter-Driven BDDF8 Gene in Hemophilia A

por Zhao, Junya, Zhou, Miaojin, Wang, Zujia, Wu, Lingqian, Hu, Zhiqing, Liang, Desheng
Publicado 2022

Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study

por Yuan, Xiying, Wang, Weinan, Dai, Lei, Yong, Wenjing, Pei, Chenlin, Li, Jingzhi, Wu, Lingqian
Publicado 2023

A de novo heterozygous POU3F3 genotype for the p.(Q214*) variant in a fetus with transient isolated bilateral mild ventriculomegaly: a case report and review of the literature

por Zhang, Hongyun, Linpeng, Siyuan, Teng, Yanling, Peng, Can, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Publicado 2023

Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report

por Luo, Shiyu, Huang, Wen, Xia, Qiuping, Xia, Yan, Du, Qian, Wu, Lingqian, Duan, Ranhui
Publicado 2014

Novel variants in the KERA gene cause autosomal recessive cornea plana in a Chinese family: A case report

por Huang, Chengzi, Long, Xigui, Peng, Can, Lin, Pengsiyuan, Tan, Hu, Lv, Weigang, Wu, Lingqian
Publicado 2019

ssODN-Mediated In-Frame Deletion with CRISPR/Cas9 Restores FVIII Function in Hemophilia A-Patient-Derived iPSCs and ECs

por Hu, Zhiqing, Zhou, Miaojin, Wu, Yong, Li, Zhuo, Liu, Xionghao, Wu, Lingqian, Liang, Desheng
Publicado 2019

Cas12a and Lateral Flow Strip-Based Test for Rapid and Ultrasensitive Detection of Spinal Muscular Atrophy

por Zhang, Chunhua, Li, Zhuo, Chen, Miaomiao, Hu, Zhiqing, Wu, Lingqian, Zhou, Miaojin, Liang, Desheng
Publicado 2021

Targeted B-domain deletion restores F8 function in human endothelial cells and mice

por Hu, Zhiqing, Li, Zhuo, Wu, Yong, Zhao, Junya, Wu, Lingqian, Zhou, Miaojin, Liang, Desheng
Publicado 2022

Fertilization and neonatal outcomes after early rescue intracytoplasmic sperm injection: a retrospective analysis of 16,769 patients

por Zeng, Jun, Yao, Zhongyuan, Zhang, Yeqing, Tian, Fen, Liao, Tingting, Wu, Lingqian, Li, Yanping
Publicado 2022