A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report

por Wang, Jing, Zhu, Qian, Liu, Hongqian
Publicado 2018

Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa

por Wang, Jing, Zhou, Cong, Xiao, Yuanyuan, Liu, Hongqian
Publicado 2018

A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia

por Liu, Mohan, Zhang, Xueguang, Liu, Hongqian, Shen, Ying
Publicado 2020

Impaired Function of a Rare Mutation in the MMUT Gene Causes Methylmalonic Acidemia in a Chinese Patient

por Dai, Siyu, Yang, Yanting, Li, Yaqian, Liu, Hongqian
Publicado 2022

Ovarian masses in children and adolescents in China: analysis of 203 cases

por Liu, Hongqian, Wang, Xiangao, Lu, Donghao, Liu, Zhihong, Shi, Gang
Publicado 2013

Novel biallelic loss-of-function variants in CEP290 cause Joubert syndrome in two siblings

por Wang, Xiang, Zhang, Zhu, Zhang, Xueguang, Shen, Ying, Liu, Hongqian
Publicado 2020

Novel biallelic mutations in TTC29 cause asthenoteratospermia and male infertility

por Dai, Siyu, Liang, Yan, Liu, Mohan, Yang, Yanting, Liu, Hongqian, Shen, Ying
Publicado 2022

Genomic amplification of the human telomerase gene (hTERC) associated with human papillomavirus is related to the progression of uterine cervical dysplasia to invasive cancer

por Liu, Hongqian, Liu, Shanling, Wang, He, Xie, Xiaoyan, Chen, Xinlian, Zhang, Xuemei, Zhang, Youcheng
Publicado 2012

Identification of a Novel Missense Mutation of the PHEX Gene in a Large Chinese Family with X-Linked Hypophosphataemia

por Yang, Yanting, Wang, Yuanda, Shen, Ying, Liu, Mohan, Dai, Siyu, Wang, Xiaodong, Liu, Hongqian
Publicado 2022

Long‐read Oxford nanopore sequencing reveals a de novo case of complex chromosomal rearrangement involving chromosomes 2, 7, and 13

por Xing, Lingling, Shen, Ying, Wei, Xiang, Luo, Yuan, Yang, Yan, Liu, Haipeng, Liu, Hongqian
Publicado 2022

1-calcium phosphate-uracil, a synthesized pyrimidine derivative agent, has anti-proliferative, pro-apoptotic and anti-invasion effects on multiple tumor cell lines

por PENG, JING, CHEN, XINLIAN, HU, QIAN, YANG, MEI, LIU, HONGQIAN, WEI, WEI, LIU, SHANLING, WANG, HE
Publicado 2014

Segmental aneuploidies in fetuses with isolated echogenic intracardiac focus among women younger than 35 years

por Wang, Jing, Chen, Lin, Wang, Li, Yin, Daishu, Zeng, Yang, Tang, Feng, Tian, Yu, Liu, Hongqian
Publicado 2020

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella

por Liu, Mohan, Dai, Siyu, Zhang, Jiying, Yang, Yihong, Shen, Ying, Liu, Hongqian, Yang, Yanting, Jiang, Chuan, Tian, Erpo
Publicado 2023

Defining the scope of extended NIPS in Western China: evidence from a large cohort of fetuses with normal ultrasound scans

por Chen, Lin, Wang, Li, Zeng, Yang, Yin, Daishu, Tang, Feng, Xie, Dan, Zhu, Hongmei, Liu, Hongqian, Wang, Jing
Publicado 2023

Establishment of a new representative model of human ovarian cancer in mice

por Zhang, Jianjun, Chen, Xinlian, Shi, Gang, Xie, Xiaoyan, Liu, Hongqian, Zhang, Xuemei, Lai, Yi, Zuo, Yan, Chen, Zhong, Liu, Shanling, Wang, He
Publicado 2013

USP9X expression correlates with tumor progression and poor prognosis in esophageal squamous cell carcinoma

por Peng, Jing, Hu, Qian, Liu, Weiping, He, Xiaoli, Cui, Ling, Chen, Xinlian, Yang, Mei, Liu, Hongqian, Wei, Wei, Liu, Shanling, Wang, He
Publicado 2013

A Retrospective Analysis Of Different Contingent Screening Models For Fetal Down Syndrome In Southwestern China

por Luo, Wei, He, Bin, Han, Daiwen, Yuan, Lixing, Chen, Xinlian, Pang, Ling, Tang, Jun, Zou, Fene, Zhao, Kai, Du, Yepei, Liu, Hongqian
Publicado 2020

Diagnostic Accuracy of Interleukin-27 in Bronchoalveolar Lavage Fluids for Pulmonary Tuberculosis

por Lin, Shan, Wang, Yan, Li, Yuhong, Xiao, Di, Guo, Jin, Ma, Weixiu, An, Wenjing, Liu, Hongqian, Shi, Yingqing, Zhang, Lei, Cui, Jingxia, Guan, Wei
Publicado 2019

REDBot: Natural language process methods for clinical copy number variation reporting in prenatal and products of conception diagnosis

por Liu, Mengmeng, Zhong, Yunshan, Liu, Hongqian, Liang, Desheng, Liu, Erhong, Zhang, Yu, Tian, Feng, Liang, Qiaowei, Cram, David S., Wang, Hua, Wu, Lingqian, Yu, Fuli
Publicado 2020

Maternal, neonatal, pregnancy outcome characteristics of pregnant women with high plasma cell-free DNA concentration in non-invasive prenatal screening: a retrospective analysis

por Xing, Lingling, Bai, Ting, Liu, Sha, Liu, Jianlong, Jing, Xiaosha, Deng, Cechuan, Xia, Tianyu, Liu, Yunyun, Cheng, Jing, Wei, Xiang, Luo, Yuan, Zhou, Quanfang, Zhu, Qian, Liu, Hongqian
Publicado 2023