DOI: 10.1055/s-00046370

Global Medical Genetics

Issue 02 · Volume 11 · June 2024 DOI: 10.1055/s-014-59419

Original Article

  • 132
    Liu, Yupeng; Han, Cong; Li, Jie; Xu, Shicai; Xiao, Zhijian; Guo, Zhiyun; Rao, Shuquan; Yao, Yao:

    Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2V617F Mutation

  • 142
  • 150
  • 167
    Bardhan, Mainak; Polavarapu, Kiran; Baskar, Dipti; Preethish-Kumar, Veeramani; Vengalil, Seena; Nashi, Saraswati; Ganaraja, Valakunja H.; Sharma, Dinesh; Kulanthaivelu, Karthik; Nandeesh, B.N.; Nalini, Atchayaram:

    Identification of a Novel Intronic Mutation in VMA21 Associated with a Classical Form of X-Linked Myopathy with Autophagy

  • 175
  • 187
    Luo, Fangxiu; Zhao, Jialu; Chen, Yubao; Peng, Zhenping; An, Ran; Lu, Yeling; Li, Jiaming:

    Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome

  • Review Article

  • 159