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

Por Yu, Rong, Liu, Lv, Li, Ya-Li, Fan, Liang-Liang
Publicado no Biomed Res Int (2021)

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

Por Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Publicado no Front Neurosci (2021)

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

Por Fan, Liang-Liang, He, Xu-Kun, Han, Yu, Du, Li, Zhao, Liang, Zhe, Jiang
Publicado em 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...

Por Liu, Ji-jia, Fan, Liang-liang, Chen, Jin-lan, Tan, Zhi-ping, Yang, Yi-feng
Publicado em 2014

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

Por Yuan, Zhuang-Zhuang, Fan, Liang-Liang, Jiang, Zi-Chen, Yang, Yi-Feng, Tan, Zhi-Ping
Publicado no 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

Por Wang, Chen-Yu, Chen, Ya-Qin, Jin, Jie-Yuan, Du, Ran, Fan, Liang-Liang, Xiang, Rong
Publicado no Front Genet (2020)

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

Por Liu, Ji-Shi, Huang, Hao, Jin, Jie-Yuan, Du, Ran, Wang, Chen-Yu, Fan, Liang-Liang
Publicado no Mol Syndromol (2020)

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

Por Tang, Jian-Xia, Xiao, Xiang-Shui, Wang, Kai, Jin, Jie-Yuan, Fan, Liang-Liang, Xiang, Rong
Publicado no Biomed Res Int (2020)

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

Por Xiang, Rong, Li, Jing-Jing, Liu, Ji-Shi, Fan, Liang-Liang, Li, Lin, Xia, Kun, Zhang, Hao
Publicado no Int J Clin Exp Pathol (2017)

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

Por Huang, Hao, Chen, Ya‐Qin, Fan, Liang‐Liang, Guo, Shuai, Li, Jing‐Jing, Jin, Jie‐Yuan, Xiang, Rong
Publicado no J Cell Mol Med (2017)

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

Por Wu, Bo-Da, Wang, Yong-Jun, Fan, Liang-Liang, Huang, Hui, Zhou, Peng, Yang, Mei, Shi, Xiao-Liu
Publicado no 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

Por Fan, Liang‐Liang, Liu, Lv, Luo, Fang‐Mei, Du, Ran, Wang, Chen‐Yu, Dong, Yi, Liu, Ji‐Shi
Publicado no Mol Genet Genomic Med (2020)

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

Por Zhang, Qiu-Ting, Tu, Zong-Cai, Wang, Hui, Huang, Xiao-Qin, Fan, Liang-Liang, Bao, Zhong-Yu, Xiao, Hui
Publicado no J Food Sci Technol (2014)

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

Por Ma, Cong, Liu, Lv, Wang, Fang-Na, Tian, Hai-Shen, Luo, Yan, Yu, Rong, Fan, Liang-Liang, Li, Ya-Li
Publicado no BMC Med Genet (2019)

A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity

Por Guo, Shuai, Fan, Xue-Feng, Jin, Jie-Yuan, Fan, Liang-Liang, Zeng, Lei, Zhou, Zheng-Bing, Xiang, Rong, Tang, Ju-Yu
Publicado no Mol Cytogenet (2018)

Compound heterozygous GNPTAB mutations cause mucolipidosis II or III alpha/beta in two Chinese families

Por Yu, Fang, Jin, Jie-Yuan, He, Ji-Qiang, Fan, Liang-Liang, Jiao, Zi-Jun, Wu, Pan-Feng, Tang, Ju-Yu, Xiang, Rong
Publicado no Int J Clin Exp Pathol (2019)

A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance

Por Tang, Yi, Zhang, Liyang, Xie, Wenlin, Jin, Jieyuan, Luo, Yujiao, Deng, Mingyang, Liu, Zhengyu, Pan, Hong Wei, Zhang, Yi, Zheng, Zhaofen, Fan, Liang-Liang
Publicado no Front Genet (2020)

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

Por Jin, Jie-Yuan, Wu, Pan-Feng, He, Ji-Qiang, Fan, Liang-Liang, Yuan, Zhuang-Zhuang, Pang, Xiao-Yang, Tang, Ju-Yu, Zhang, Li-Yang
Publicado no Front Genet (2020)

Mutation detection in Chinese patients with familial hypercholesterolemia

Por Du, Ran, Fan, Liang-Liang, Lin, Min-Jie, He, Zhi-Jian, Huang, Hao, Chen, Ya-Qin, Li, Jing-Jing, Xia, Kun, Zhao, Shui-Ping, Xiang, Rong
Publicado no Springerplus (2016)

Increased RTN3 leads to obesity and hypertriglyceridemia by interacting with HSPA5

Por Xiang, Rong, Fan, Liang-liang, Huang, Hao, Chen, Ya-qin, He, Wanxia, Guo, Shuai, Li, Jing-Jing, Jin, Jie-yuan, Du, Ran, Yan, Riqiang, Xia, Kun
Publicado no Circulation (2018)