Meizhen Shi
Nanning, China
Last Updated: 09/26/2026
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Found 8 publications
Corrigendum to 'Clinical validation and application of targeted long-range PCR and long-read sequencing-based analysis for haemophilia: experience from a haemophilia treatment centre in China': [JTHA, Volume 22, Issue 12, December 2024, Pages 3431-3447].
Journal: Journal of thrombosis and haemostasis : JTH
Published: June 22, 2025
A hypomorphic SRD5A2 haplotype with a potential founder effect: composed of common variants in individuals with 5α-reductase type 2 deficiency from South China.
Journal: Biology of sex differences
Published: April 16, 2025
49, XXXYY: Parental Origin, Occurrence, and Clinical Phenotypes.
Journal: Genetics research
Published: December 18, 2024
The cryptic complex rearrangements involving the DMD gene: etiologic clues about phenotypical differences revealed by optical genome mapping.
Journal: Human genomics
Published: May 29, 2024
Clinical validation and application of targeted long-range polymerase chain reaction and long-read sequencing-based analysis for hemophilia: experience from a hemophilia treatment center in China.
Journal: Journal of thrombosis and haemostasis : JTH
Published: March 12, 2024
Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes.
Journal: BMC medical genomics
Published: July 24, 2023
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.
Journal: Frontiers in genetics
Published: June 24, 2023
Case report: A novel heterozygous synonymous variant in deep exon region of NIPBL gene generating a non-canonical splice donor in a patient with cornelia de lange syndrome.
Journal: Frontiers in genetics
Published: September 28, 2022
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Last Updated: 09/26/2026