Identification of Five Novel Mutations Causing Rare Lysosomal Storage Diseases

por Yang, Chenxi, Pan, Jianyan, Linpeng, Siyuan, Li, Zhuo, Tan, Hu, Wu, Lingqian
Publicado 2019

Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1

por Linpeng, Siyuan, Liu, Jing, Pan, Jianyan, Cao, Yingxi, Teng, Yanling, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Publicado 2018

Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers

por Pan, Jianyan, Zhang, Chunhua, Teng, Yanling, Zeng, Sijing, Chen, Siyi, Liang, Desheng, Li, Zhuo, Wu, Lingqian
Publicado 2021