Jianhong Chen
Huizhou, China
Last Updated: 09/26/2026
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Found 19 publications
Detection and characterization of SMN1 deletions in type IV spinal muscular atrophy using long-read whole-genome sequencing.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 26, 2026
Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report.
Journal: Frontiers in pediatrics
Published: March 26, 2026
Genetic dissection of clinical heterogeneity in hemoglobin H patients by targeted long-read sequencing.
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: December 11, 2025
METTL3-mediated N6-methyladenosine modification of LEPR is critical for fetal growth restriction.
Journal: Placenta
Published: October 31, 2025
Phenotypes of Hereditary Diseases Associated With Rauch-Steindl Syndrome.
Journal: Human mutation
Published: August 21, 2025
Molecular epidemiology and hematological thresholds for αβ-thalassemia: a retrospective cohort study in the Huizhou region of southern China.
Journal: Hematology (Amsterdam, Netherlands)
Published: June 21, 2025
Analysis of hematological characteristics of patients with three common deletional β-thalassemias and concomitant α-thalassemia in Huizhou, Guangdong province
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 11, 2025
Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature review.
Journal: Orphanet journal of rare diseases
Published: January 05, 2025
Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype.
Journal: Frontiers in genetics
Published: December 17, 2024
ALG8-CDG: advances in molecular and prenatal phenotyping facilitate prenatal diagnosis and genetic counseling.
Journal: QJM : monthly journal of the Association of Physicians
Published: November 20, 2024
A novel case of Hb Bart's hydrops fetalis following prenatal diagnosis: Case report from Huizhou, China.
Journal: Practical laboratory medicine
Published: September 18, 2024
Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China.
Journal: Taiwanese journal of obstetrics & gynecology
Published: May 24, 2023
Last Updated: 09/26/2026