Yiyan Ruan
Nanning, 530002, China
Last Updated: 09/26/2026
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Found 9 publications
Nusinersen effectiveness and safety in children with type II/III 5q-spinal muscular atrophy: Second interim analysis from a Chinese disease registry.
Journal: Chinese medical journal
Published: August 30, 2025
Epilepsy in Chinese Children With Mowat-Wilson Syndrome: Two Case Reports and Literature Review.
Journal: Journal of paediatrics and child health
Published: June 17, 2025
Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family: A case report and literature review.
Journal: Experimental and therapeutic medicine
Published: June 06, 2025
A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype-phenotype correlation and literature review.
Journal: BMC neurology
Published: April 23, 2025
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.
Journal: American journal of human genetics
Published: March 25, 2024
Effects of nusinersen on motor function in children with spinal muscular atrophy: a retrospective study.
Journal: Frontiers in neurology
Published: February 26, 2024
Safety and efficacy of gene therapy with onasemnogene abeparvovec in the treatment of spinal muscular atrophy: A systematic review and meta-analysis.
Journal: Journal of paediatrics and child health
Published: August 16, 2022
Case Report: Christianson Syndrome Caused by SLC9A6 Mutation: From Case to Genotype-Phenotype Analysis.
Journal: Frontiers in genetics
Published: September 27, 2021
HPDL deficiency causes a neuromuscular disease by impairing the mitochondrial respiration.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: November 18, 2020
Showing 1-9 of 9
Last Updated: 09/26/2026