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

по Yu, Rong, Liu, Lv, Li, Ya-Li, Fan, Liang-Liang
Опубликовано в: 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

по Luo, Fang-Mei, Fan, Liang-Liang, Sheng, Yue, Dong, Yi, Liu, Lv
Опубликовано в: Front Pediatr (2021)

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

по Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Опубликовано в: Front Neurosci (2021)

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

по Luo, Fang-Mei, Deng, Ming-Xing, Yu, Rong, Liu, Lv, Fan, Liang-Liang
Опубликовано в: Front Neurosci (2021)

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

по Fan, Liang-Liang, He, Xu-Kun, Han, Yu, Du, Li, Zhao, Liang, Zhe, Jiang
Опубликовано 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...

по Liu, Ji-jia, Fan, Liang-liang, Chen, Jin-lan, Tan, Zhi-ping, Yang, Yi-feng
Опубликовано 2014

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

по Yuan, Zhuang-Zhuang, Fan, Liang-Liang, Jiang, Zi-Chen, Yang, Yi-Feng, Tan, Zhi-Ping
Опубликовано в: 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

по Wang, Chen-Yu, Chen, Ya-Qin, Jin, Jie-Yuan, Du, Ran, Fan, Liang-Liang, Xiang, Rong
Опубликовано в: Front Genet (2020)

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

по Liu, Ji-Shi, Huang, Hao, Jin, Jie-Yuan, Du, Ran, Wang, Chen-Yu, Fan, Liang-Liang
Опубликовано в: Mol Syndromol (2020)

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

по Tang, Jian-Xia, Xiao, Xiang-Shui, Wang, Kai, Jin, Jie-Yuan, Fan, Liang-Liang, Xiang, Rong
Опубликовано в: Biomed Res Int (2020)

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

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

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

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

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

по Wu, Bo-Da, Wang, Yong-Jun, Fan, Liang-Liang, Huang, Hui, Zhou, Peng, Yang, Mei, Shi, Xiao-Liu
Опубликовано в: 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

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

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

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

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

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

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

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

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

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

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

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

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

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