Junhui Sun

发表

A de novo mosaic mutation of PHEX in a boy with hypophosphatemic rickets

P. Yu, M. Qi, C. Weng, 2015, Journal of Human Genetics.

First- and Second-Line Treatments for Patients with Advanced Hepatocellular Carcinoma in China: A Systematic Review

Haitao Zhao, Lan Zhang, Kui Wang, 2022, Current oncology.

Identification and functional characterization of a novel homozygous intronic variant in the fumarylacetoacetate hydrolase gene in a Chinese patient with tyrosinemia type 1

Mengmeng Du, Xuefang Li, Jiao Chen, 2022, BMC Medical Genomics.

CLIF-C AD score predicts survival benefit from pre-emptive TIPS in individuals with Child-Pugh B cirrhosis and acute variceal bleeding

Changbing Yang, D. Fan, G. Han, 2022, JHEP reports : innovation in hepatology.

Role of NDP- and FZD4-Related Novel Mutations Identified in Patients with FEVR in Norrin/β-Catenin Signaling Pathway

M. Qi, Junhui Sun, Liwei Yang, 2020, BioMed research international.

GUCY2D Gene Loss-of-Function Mutations Responsible for Leber Congenital Amaurosis 1

Y. Huo, M. Qi, F. Xue, 2019 .

Deoxyribonucleic acid methylation signatures in sperm deoxyribonucleic acid fragmentation.

Xuefeng Huang, Weijian Zhu, C. Pan, 2021, Fertility and sterility.

Identification and characterization of novel compound heterozygous variants in FSHR causing primary ovarian insufficiency with resistant ovary syndrome

M. Qi, Linjie Chen, Xiaopan Chen, 2023, Frontiers in Endocrinology.

Gene Therapy for Rdh12-Associated Retinal Diseases Helps to Delay Retinal Degeneration and Vision Loss

M. Qi, Jian-hong An, Yuqing Cao, 2021, Drug design, development and therapy.

DDDT_A_305378 3581..3591

M. Qi, Jian-hong An, Yuqing Cao, 2021 .

Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome

P. Yu, M. Qi, C. Weng, 2020, Clinical and Experimental Nephrology.

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

Y. Huo, P. Yu, M. Qi, 2020, PloS one.

Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia

M. Qi, Jiong Cai, Alexandru George Dumitru, 2020, The Journal of dermatology.

Population-Wide Duchenne Muscular Dystrophy Carrier Detection by CK and Molecular Testing

R. Griggs, M. Qi, Songying Zhang, 2020, BioMed research international.

Status of transjugular intrahepatic portosystemic shunt for portal hypertension in China: A national survey analysis

Xianghui Qi, Xuefeng Luo, Xinwei Han, 2023, Portal Hypertension & Cirrhosis.