Yiyun Shi
No.399, Wanyuan Road
Minhang, 201102, China
Minhang, 201102, China
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 12 publications
From shadows to clarity: A new paradigm for comprehensive variant detection in undiagnosed dystrophinopathy using combined long-read and RNA sequencing.
Journal: Computational and structural biotechnology journal
Published: July 01, 2025
Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.
Inter- and intra-familial phenotypic variability of autosomal dominant collagen VI related disorder.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 02, 2024
Clinical, Pathologic, and Genetic Spectrum of Collagen VI-Related Disorder in China-A Retrospective Observational Multicenter Study.
Journal: Human mutation
Published: March 13, 2024
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Comprehensive analysis of 2097 patients with dystrophinopathy based on a database from 2011 to 2021.
Journal: Orphanet journal of rare diseases
Published: July 07, 2023
Comprehensive profile and natural history of pediatric patients with spinal muscular atrophy: A large retrospective study from China.
Journal: Frontiers in neurology
Published: September 06, 2022
Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.
Journal: Frontiers in pediatrics
Published: August 16, 2021
Genetic analysis and treatment for an infant with cerebral creatine deficiency syndrome type 2
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 21, 2020
A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.
Journal: BMC neurology
Published: April 16, 2020
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China.
Journal: Frontiers in neurology
Published: March 22, 2020
Clinical and molecular characterization of pediatric mitochondrial disorders in south of China.
Journal: European journal of medical genetics
Published: October 24, 2019
A comprehensive database of Duchenne and Becker muscular dystrophy patients (0-18 years old) in East China.
Journal: Orphanet journal of rare diseases
Published: August 27, 2014
The study of the domestic digital amplitude integrated EEG performance
Journal: Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi
Published: March 13, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026