Bobo Xie
No.59, Xiangzhu Road
Nanning, China
Nanning, China
Last Updated: 09/26/2026
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Found 48 publications
Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by ABHD16A gene variants: an integrated analysis based on novel variants and literature review.
Journal: Frontiers in pediatrics
Published: October 14, 2025
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
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
The effect of Ba Duan Jin on the balance of community-dwelling older adults: a cluster randomized control trial
Journal: Zhonghua liu xing bing xue za zhi = Zhonghua liuxingbingxue zazhi
Published: February 27, 2024
Analysis of a child with DIGFAN syndrome due to variant of MORC2 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 04, 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
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome.
Journal: Frontiers in genetics
Published: October 31, 2022
Last Updated: 09/26/2026