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

by Jie-Yuan Jin, Jie-Yuan Jin, Jie-Yuan Jin, Pan-Feng Wu, Ji-Qiang He, Liang-Liang Fan, Liang-Liang Fan, Zhuang-Zhuang Yuan, Xiao-Yang Pang, Ju-Yu Tang, Li-Yang Zhang, Li-Yang Zhang
Published 2020-05-01

Case Report: A Novel Gross Deletion in PAX3 (10.26 kb) Identified in a Chinese Family With Waardenburg Syndrome by Third-Generation Sequencing

by Jie-Yuan Jin, Jie-Yuan Jin, Lei Zeng, Bing-Bing Guo, Yi Dong, Ju-Yu Tang, Rong Xiang, Rong Xiang, Rong Xiang, Rong Xiang
Published 2021-08-01

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia

by Bing-Bing Guo, Jie-Yuan Jin, Zhuang-Zhuang Yuan, Lei Zeng, Rong Xiang
Published 2021-01-01

The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D

by Jie-Yuan Jin, Dan-Yu Liu, Zi-Jun Jiao, Yi Dong, Jie Li, Rong Xiang
Published 2020-01-01

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

by Jian-Xia Tang, Xiang-Shui Xiao, Kai Wang, Jie-Yuan Jin, Liang-Liang Fan, Rong Xiang
Published 2020-01-01

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

by Yi Dong, Ran Du, Liang-liang Fan, Jie-yuan Jin, Hao Huang, Ya-qin Chen, Dan-dong Bi, Rong Xiang
Published 2021-01-01

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

by Shuai Guo, Xue-Feng Fan, Jie-Yuan Jin, Liang-Liang Fan, Lei Zeng, Zheng-Bing Zhou, Rong Xiang, Ju-Yu Tang
Published 2018-01-01

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

by Chen-Yu Wang, Chen-Yu Wang, Ya-Qin Chen, Jie-Yuan Jin, Ran Du, Liang-Liang Fan, Liang-Liang Fan, Rong Xiang, Rong Xiang, Rong Xiang
Published 2020-07-01

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

by Yi-Hui Liu, Yi-Hui Liu, Hai-Feng Zhang, Jie-Yuan Jin, Yan-Qiu Wei, Chen-Yu Wang, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Lv Liu, Lv Liu
Published 2021-06-01