Cuili Liang
No.9 Jinsui Road
Guangzhou, 510623, China
Guangzhou, 510623, China
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 21 publications
Clinical and molecular characteristics of a series of Chinese children with pseudohypoaldosteronism: a case series.
Journal: Translational pediatrics
Published: November 24, 2025
Five-year disease-modifying therapeutic experience of 102 Chinese paediatric 5q-spinal muscular atrophy: a retrospective analysis.
Journal: Brain communications
Published: March 27, 2025
Clinical characteristics, genetic spectrum and therapeutic effects of 51 male patients with idiopathic hypogonadotropic hypogonadism from southern China.
Journal: Orphanet journal of rare diseases
Published: March 23, 2025
A Chinese Patient With Alopecia-Intellectual Disability Syndrome 4 Carrying a Known Missense Variant of LSS Gene and an Unreported Gross Deletion Involving LSS Gene.
Journal: The Journal of dermatology
Published: January 22, 2025
Musculoskeletal deformities in children with spinal muscular atrophy: a multicenter cross-sectional study with longitudinal follow-up.
Journal: Annals of physical and rehabilitation medicine
Published: October 16, 2024
A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.
Journal: Clinical genetics
Published: September 12, 2024
Clinical characteristics and prognosis of early diagnosed Wilson's disease: A large cohort study.
Journal: Liver international : official journal of the International Association for the Study of the Liver
Published: January 28, 2024
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants.
Journal: Metabolic brain disease
Published: September 01, 2023
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
Journal: Pediatric nephrology (Berlin, Germany)
Published: June 23, 2023
Modified nusinersen intrathecal injection method: inclusion of a septal needle-free closed infusion connector.
Journal: Frontiers in neurology
Published: June 04, 2023
Allogeneic hematopoietic stem cell transplantation for mucopolysaccharidosis patients: a single-center experience and assessment of quality of life.
Journal: Italian journal of pediatrics
Published: January 19, 2023
Novel compound heterozygous variant of GJA8 gene in two siblings with congenital cataract mimics an autosomal recessive trait.
Journal: European journal of ophthalmology
Published: October 20, 2022
Last Updated: 09/26/2026