Showing results (11-20 of 18) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 18 results.
Italian Journal of Pediatrics|July 8, 2025
A novel intronic variant in the ASAH1 gene enhances aberrant splicing, causing spinal muscular atrophy with progressive myoclonic epilepsyJinli Bai, Ping Li, Hui Jiao, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics|September 30, 2024
[Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy]Wenchen Huang, Jinli Bai, Hong Wang, et al.
Heliyon|March 22, 2024
Variants located in intron 6 of <i>SMN1</i> lead to misdiagnosis in genetic detection and screening for SMAYujin Qu, Jinli Bai, Hui Jiao, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|December 29, 2023
A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophyJinli Bai, Yujin Qu, Wenchen Huang, et al.
Frontiers in Neurology|September 17, 2024
Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, et al.
Frontiers in Neurology|November 13, 2024
Corrigendum: Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3Shijia Ouyang, Xiaoyin Peng, Wenchen Huang, et al.
Human Molecular Genetics|December 10, 2021
Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse modelJia Wang, Jinli Bai, Shijia OuYang, et al.
Neuromuscular Disorders : NMD|April 6, 2023
Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophyJinli Bai, Yujin Qu, Shijia OuYang, et al.
Pageof 2