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Orphanet Journal of Rare Diseases|April 2, 2025
Application value of long-read sequencing in full characterization of thalassemia-associated structural variations: identifying a novel large segmental duplication and literature reviewZeyan Zhong, Ganwei Zheng, Dina Zhu, et al.Molecular Genetics and Genomics : MGG|May 24, 2024
Precise diagnosis of a hereditary spherocytosis patient with complicated hematological phenotypeGuanxia Liang, Zezhang Lin, Yang Zhang, et al.British Journal of Haematology|July 9, 2023
A novel gain-of-function PIP4K2A mutation elevates the expression of β-globin and aggravates the severity of α-thalassemiaYanxia Zhang, Hongting Xie, Guanxia Liang, et al.Pageof 2