Duan Li
Guangzhou, China
Last Updated: 09/26/2026
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Found 9 publications
Identification of a Chinese patient with MTSS2-causing intellectual disability by WES reanalysis: a case report.
Journal: Frontiers in psychiatry
Published: October 09, 2025
Symptomatic Hypokalemia Due to NPHP1-Associated Nephronophthisis.
Journal: Indian journal of pediatrics
Published: May 15, 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
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
Journal: Orphanet journal of rare diseases
Published: January 11, 2024
The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.
Journal: Clinical genetics
Published: July 28, 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
The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.
Journal: Clinical genetics
Published: May 25, 2022
A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
Journal: Metabolism: clinical and experimental
Published: December 07, 2018
Body composition and bone mineral status in patients with Turner syndrome.
Journal: Scientific reports
Published: April 11, 2016
Showing 1-9 of 9
Last Updated: 09/26/2026