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List of works by Hui Xiong

A splice site mutation c.1251G>A of ISPD gene is a common cause of congenital muscular dystrophy in Chinese patients

scientific article published on 07 January 2020

Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients

scientific article published on 22 June 2020

Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy

scientific article published in Scientific Reports

Genetic Variations and Clinical Spectrum of Dystroglycanopathy in a Large Cohort of Chinese Patients

scientific article published on 16 November 2020

Genetic and Clinical Findings in a Chinese Cohort of Patients with collagen VI-Related Myopathies.

scientific article

Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy

scientific article published on 29 March 2020

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

scientific article

Nuclear Factor-κB Pathway Mediates the Molecular Pathogenesis of LMNA-Related Muscular Dystrophies

scientific article published on 23 July 2020

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