Rui Hua
Rui Hua
Clinician of Reproductive Medicine, Nan Fang Hospital
Verified email at nus.edu.sg
Title
Cited by
Cited by
Year
Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis
Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ...
Nature genetics 41 (2), 228-233, 2009
1692009
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract
T Zhang, R Hua, W Xiao, KP Burdon, SS Bhattacharya, JE Craig, D Shang, ...
Human mutation 30 (5), E603-E611, 2009
972009
Copy-number mutations on chromosome 17q24. 2-q24. 3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia
M Sun, N Li, W Dong, Z Chen, Q Liu, Y Xu, G He, Y Shi, X Li, J Hao, Y Luo, ...
The American Journal of Human Genetics 84 (6), 807-813, 2009
672009
Leptin and coronary heart disease: a systematic review and meta-analysis
SB Chai, F Sun, XL Nie, J Wang
Atherosclerosis 233 (1), 3-10, 2014
582014
Non‐invasive prenatal diagnostic testing for β‐thalassaemia using cell‐free fetal DNA and next generation sequencing
L Xiong, AN Barrett, R Hua, TZ Tan, SSY Ho, JKY Chan, M Zhong, ...
Prenatal Diagnosis 35 (3), 258-265, 2015
512015
A novel prostate cancer therapeutic strategy using icaritin-activated arylhydrocarbon-receptor to co-target androgen receptor and its splice variants
F Sun, IR Indran, ZW Zhang, MHE Tan, Y Li, ZLR Lim, R Hua, C Yang, ...
Carcinogenesis 36 (7), 757-768, 2015
432015
Human cataract mutations in EPHA2 SAM domain alter receptor stability and function
JE Park, AI Son, R Hua, L Wang, X Zhang, R Zhou
PLoS One 7 (5), e36564, 2012
352012
Chronic exposure to mono‐(2‐ethylhexyl)‐phthalate causes endocrine disruption and reproductive dysfunction in zebrafish
Y Zhu, R Hua, Y Zhou, H Li, S Quan, Y Yu
Environmental toxicology and chemistry 35 (8), 2117-2124, 2016
182016
Detection of aneuploidy from single fetal nucleated red blood cells using whole genome sequencing
R Hua, AN Barrett, TZ Tan, Z Huang, AP Mahyuddin, S Ponnusamy, ...
Prenatal Diagnosis 35 (7), 637-644, 2015
172015
长方案垂体降调节行 IVF-ET 时雌二醇水平变化的意义
倪郝, 陈雷宁, 全松, 李红, 华芮, 高瑞花, 陈思梅, 罗琛
南方医科大学学报 31 (2), 365-368, 2011
172011
Non‐invasive prenatal testing for fetal inheritance of maternal β‐thalassaemia mutations using targeted sequencing and relative mutation dosage: a feasibility study
L Xiong, AN Barrett, R Hua, SSY Ho, L Jun, KCA Chan, Z Mei, M Choolani
BJOG: An International Journal of Obstetrics & Gynaecology 125 (4), 461-468, 2018
122018
Measurement of fetal fraction in cell-free DNA from maternal plasma using a panel of insertion/deletion polymorphisms
AN Barrett, LI Xiong, TZ Tan, HV Advani, R Hua, C Laureano-Asibal, ...
PloS one 12 (10), e0186771, 2017
92017
Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia.
J Zhao, R Hua, X Zhao, Y Meng, Y Ao, Q Liu, D Shang, M Sun, WH Lo, ...
The British journal of dermatology 158 (3), 614, 2008
92008
基础窦卵泡数与高生育年龄患者 IVF/ICSI-ET 结局的关系及经济学评价
倪郝, 陈雷宁, 李红, 邱卓琳, 华芮, 高瑞花, 谭洪川, 贺玲, 全松
实用妇产科杂志, 124-127, 2012
32012
眼脑肾综合征一家系的 OCRL 基因致病突变检测
华芮, 杨威, 孙念怙, 张学
中华眼科杂志 47 (9), 801-805, 2011
32011
我国诺里病家系 NDP 基因的突变分析
张天晓, 赵秀丽, 华芮, 张劲松, 张学
中华眼科杂志 48 (009), 815-818, 2012
22012
常染色体显性遗传核性白内障合并小角膜的 CRYAA 基因突变研究
梁小芳, 肖伟, 石磊, 华芮, 张学
中华眼科杂志 47 (4), 310-313, 2011
22011
Erratum: Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis (Nature Genetics (2009) 41 (228-233))
Y Wen, Y Liu, Y Xu, Y Zhao, R Hua, K Wang, M Sun, Y Li, S Yang, ...
Nature Genetics 41 (6), 762, 2009
22009
一常染色体显性遗传性白内障家系致病基因的排除性定位
梁小芳, 华芮, 石磊, 肖伟
眼科研究 28 (8), 745-748, 2010
12010
野生型 ADAR1 蛋白与其 R916W 突变体在哺乳动物细胞中相互作用的研究
刘扬, 柳青, 赵谨, 吕丹, 华芮, 罗阳, 张学
山東大學學報 (醫學版) 45 (5), 450-454, 2007
12007
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