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Journal of Food Science and Technology|June 2, 2015
Functional properties and structure changes of soybean protein isolate after subcritical water treatmentQiu-Ting Zhang, Zong-Cai Tu, Hui Wang, et al.
Molecular Biology Reports|February 27, 2024
A compound heterozygous mutation of ERCC8 is responsible for a family with Cockayne syndromeMeng-Wei Liu, Cheng-Feng Hu, Jie-Yuan Jin, et al.
Frontiers in Neurology|March 14, 2024
Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot-Marie-Tooth diseaseGao-Hui Cao, Mei-Fang Zhao, Yi Dong, et al.
Annals of Human Genetics|October 3, 2018
A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathyShu-Bing Zhang, Yu-Xing Liu, Liang-Liang Fan, et al.
Gene|January 23, 2018
Whole exome sequencing identifies a novel mutation (c.333 + 2T > C) of TNNI3K in a Chinese family with dilated cardiomyopathy and cardiac conduction diseaseLiang-Liang Fan, Hao Huang, Jie-Yuan Jin, et al.
Molecular Medicine (Cambridge, Mass.)|September 10, 2024
ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary diseaseChen-Yu Wang, Si-Hua Chang, Cheng-Feng Hu, et al.
Cytogenetic and Genome Research|September 5, 2016
A Novel ZRS Mutation in a Chinese Patient with Preaxial Polydactyly and Triphalangeal ThumbPan-Feng Wu, Shuai Guo, Xue-Feng Fan, et al.
Disease Markers|February 13, 2023
Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle CellsZhao-Jing Lin, Jun-Mei Xu, He-Yu Ji, et al.
Clinical Genetics|August 23, 2021
A novel POF1B variant in a Chinese patient is associated with premature ovarian failureZhuang-Zhuang Yuan, Chen-Yu Wang, Jie-Yuan Jin, et al.
Frontiers in Aging Neuroscience|July 16, 2021
Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy SyndromeYi-Hui Liu, Hai-Feng Zhang, Jie-Yuan Jin, et al.
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