H. Jiao

发表

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation

T. Toda, T. Endo, Yuwu Jiang, 2016, Journal of Human Genetics.

A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy

S. Sugano, Yutaka Suzuki, Y. Hayashi, 2015, Human Genome Variation.

Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients

T. Toda, Hai-po Yang, Jiangxi Xiao, 2015, Brain and Development.

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients

T. Toda, T. Endo, Yanling Yang, 2013, Molecular Genetics and Genomics.

Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients

T. Toda, T. Endo, Yanling Yang, 2013, Molecular Genetics and Genomics.

FKRP mutations, including a founder mutation, cause phenotype variability in Chinese patients with dystroglycanopathies

Hai-po Yang, Yanling Yang, Xi-ru Wu, 2016, Journal of Human Genetics.

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

Hai-po Yang, Yanling Yang, Xiaoqing Li, 2017, Scientific Reports.

Genotype/phenotype analysis in Chinese laminin‐α2 deficient congenital muscular dystrophy patients

Y. Jiang, Hai-po Yang, Xi-ru Wu, 2015, Clinical genetics.

Congenital muscular dystrophies in China

Zhaoxia Wang, Yun Yuan, C. Bönnemann, 2019, Clinical genetics.

Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy

Y. Qu, Hong Wang, J. Bai, 2023, Neuromuscular Disorders.

Novel copy number variation of POMGNT1 associated with muscle-eye-brain disease detected by next-generation sequencing

Hai-po Yang, Yanling Yang, Xiaoqing Li, 2017, Scientific Reports.