MITF p.Arg217Thr Variant Identified in a Han Chinese Family with Tietz/Waardenburg Syndrome

著者: Yu, Rong, Liu, Lv, Li, Ya-Li, Fan, Liang-Liang
出版年 Biomed Res Int (2021)

Case Report: Exome Sequencing Identified a Novel Frameshift Mutation of α-Actin 1 in a Chinese Family With Macrothrombocytopenia and Mild Bleeding

著者: Luo, Fang-Mei, Fan, Liang-Liang, Sheng, Yue, Dong, Yi, Liu, Lv
出版年 Front Pediatr (2021)

Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

著者: Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
出版年 Front Neurosci (2021)

Corrigendum: Case Report: Chorea-Acanthocytosis Presents as Epilepsy in a Consanguineous Family With a Nonsense Mutation of in VPS13A

著者: Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
出版年 Front Neurosci (2021)

Continuous size-based separation of microparticles in a microchannel with symmetric sharp corner structures

著者: Fan, Liang-Liang, He, Xu-Kun, Han, Yu, Du, Li, Zhao, Liang, Zhe, Jiang
出版事項 2014

A novel variant in TBX20 (p.D176N) identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal...

著者: Liu, Ji-jia, Fan, Liang-liang, Chen, Jin-lan, Tan, Zhi-ping, Yang, Yi-feng
出版事項 2014

A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

著者: Yuan, Zhuang-Zhuang, Fan, Liang-Liang, Jiang, Zi-Chen, Yang, Yi-Feng, Tan, Zhi-Ping
出版年 Front Cardiovasc Med (2020)

A Novel Nonsense Mutation of ABCA8 in a Han-Chinese Family With ASCVD Leads to the Reduction of HDL-c Levels

著者: Wang, Chen-Yu, Chen, Ya-Qin, Jin, Jie-Yuan, Du, Ran, Fan, Liang-Liang, Xiang, Rong
出版年 Front Genet (2020)

Identification of a Novel Arginine Vasopressin Receptor 2 Mutation (p.V183M) in a Chinese Family with Nephrogenic Diabetes Insipidus

著者: Liu, Ji-Shi, Huang, Hao, Jin, Jie-Yuan, Du, Ran, Wang, Chen-Yu, Fan, Liang-Liang
出版年 Mol Syndromol (2020)

Identification of a Novel Variant of ARHGAP29 in a Chinese Family with Nonsyndromic Cleft Lip and Palate

著者: Tang, Jian-Xia, Xiao, Xiang-Shui, Wang, Kai, Jin, Jie-Yuan, Fan, Liang-Liang, Xiang, Rong
出版年 Biomed Res Int (2020)

Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5

著者: Xiang, Rong, Li, Jing-Jing, Liu, Ji-Shi, Fan, Liang-Liang, Li, Lin, Xia, Kun, Zhang, Hao
出版年 Int J Clin Exp Pathol (2017)

Whole‐exome sequencing identifies a novel mutation of GPD1L (R189X) associated with familial conduction disease and sudden death

著者: Huang, Hao, Chen, Ya‐Qin, Fan, Liang‐Liang, Guo, Shuai, Li, Jing‐Jing, Jin, Jie‐Yuan, Xiang, Rong
出版年 J Cell Mol Med (2017)

Clinical and Genetic Analyses of 38 Chinese Patients with Peutz-Jeghers Syndrome

著者: Wu, Bo-Da, Wang, Yong-Jun, Fan, Liang-Liang, Huang, Hui, Zhou, Peng, Yang, Mei, Shi, Xiao-Liu
出版年 Biomed Res Int (2020)

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

著者: Fan, Liang‐Liang, Liu, Lv, Luo, Fang‐Mei, Du, Ran, Wang, Chen‐Yu, Dong, Yi, Liu, Ji‐Shi
出版年 Mol Genet Genomic Med (2020)

Identification of a novel mutation in the C6 gene of a Han Chinese C6SD child with meningococcal disease

著者: Zhang, Ai-Qian, Liu, Yu-Xing, Jin, Jie-Yuan, Wang, Chen-Yu, Fan, Liang-Liang, Xu, Da-Bao
出版年 Exp Ther Med (2021)

Functional properties and structure changes of soybean protein isolate after subcritical water treatment

著者: Zhang, Qiu-Ting, Tu, Zong-Cai, Wang, Hui, Huang, Xiao-Qin, Fan, Liang-Liang, Bao, Zhong-Yu, Xiao, Hui
出版年 J Food Sci Technol (2014)

Identification of Two Novel Frameshift Mutations in Exostosin 1 in Two Families with Multiple Osteochondromas

著者: Wang, Chen-Yu, Yu, Fang, Jin, Jie-Yuan, He, Ji-Qiang, Fan, Liang-Liang, Tang, Ju-Yu, Xiang, Rong
出版年 Mol Syndromol (2021)

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling

著者: Ma, Cong, Liu, Lv, Wang, Fang-Na, Tian, Hai-Shen, Luo, Yan, Yu, Rong, Fan, Liang-Liang, Li, Ya-Li
出版年 BMC Med Genet (2019)

Whole-Exome Sequencing Identifies a Novel TRPM4 Mutation in a Chinese Family with Atrioventricular Block

著者: Dong, Yi, Du, Ran, Fan, Liang-liang, Jin, Jie-yuan, Huang, Hao, Chen, Ya-qin, Bi, Dan-dong, Xiang, Rong
出版年 Biomed Res Int (2021)

Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome

著者: Liu, Yi-Hui, Zhang, Hai-Feng, Jin, Jie-Yuan, Wei, Yan-Qiu, Wang, Chen-Yu, Fan, Liang-Liang, Liu, Lv
出版年 Front Aging Neurosci (2021)