Chaoping Hu
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 21 publications
Clinical Genetics has become an indispensable discipline of modern medicine
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 01, 2026
PhenoRareAI: Phenotype-based intelligent diagnosis for rare neuromuscular disorders of glycogen storage disease and spinal muscular atrophy.
Journal: Health information science and systems
Published: November 25, 2025
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
Effectiveness and safety of Risdiplam for types 1-3 spinal muscular atrophy in a single center.
Journal: BMC neurology
Published: June 07, 2025
Pseudoexon activating by a deep intronic variant and phenotype variation in a Chinese family with dystrophinopathy.
Journal: Journal of human genetics
Published: February 21, 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
4qA D4Z4 Methylation Test as a Valuable Complement for Differential Diagnosis in Patients with a Facioscapulohumeral Muscular Dystrophy-Like Phenotype.
Journal: The Journal of molecular diagnostics : JMD
Published: July 04, 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
PIGW-related glycosylphosphatidylinositol deficiency: A case report and literature review.
Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Published: October 06, 2023
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
Last Updated: 09/26/2026