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Frontiers in Genetics|January 4, 2024
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature reviewXianda Wei, Xu Zhou, BoBo Xie, et al.Frontiers in Genetics|September 2, 2025
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, ChinaChunrong Gui, Zifeng Cheng, Yongsheng Chen, et al.Molecular Cytogenetics|March 17, 2015
Partial trisomy 2q33.3-q37.3 in a patient with an inverted duplicated neocentric marker chromosomeRuiyu Ma, Ying Peng, Yanghui Zhang, et al.Reproduction (Cambridge, England)|January 31, 2016
Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriersBaoheng Gui, Zhongyuan Yao, Yanping Li, et al.Gene|April 4, 2015
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic ricketsYanru Huang, Libin Mei, Qian Pan, et al.Journal of Visualized Experiments : Jove|October 1, 2019
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 GeneHuilin Wang, Xiaofan Zhu, Baoheng Gui, et al.Journal of Thrombosis and Haemostasis : JTH|September 11, 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 ChinaMeizhen Shi, Yunting Ma, Xianwei Peng, et al.International Journal of Neonatal Screening|May 27, 2026
A Prospective Multi-Center Newborn Screening for Thalassemia by Comprehensive Analysis of Thalassemia Alleles (CATSA) Based on Single Molecule Real-Time Sequencing in Guangxi, ChinaAihua Xia, Hongfei Chen, Fuhua Lu, et al.Frontiers in Genetics|December 12, 2022
Case report: A novel heterozygous synonymous variant in deep exon region of <i>NIPBL</i> gene generating a non-canonical splice donor in a patient with cornelia de lange syndromeMeizhen Shi, Yuying Liang, Bobo Xie, et al.Journal of Visualized Experiments : Jove|September 10, 2019
Semiconductor Sequencing for Preimplantation Genetic Testing for AneuploidyBaoheng Gui, Yingxin Zhang, Bo Liang, et al.Pageof 4