Using long-read sequencing to detect and subtype a case with Temple syndrome
利用长读长测序技术检测和分型一例坦普尔综合征病例。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2024-110262
Dada, Sarah; Akbari, Vahid; Hejla, Duha; Shen, Yaoqing; Dixon, Katherine; Choufani, Sanaa; Weksberg, Rosanna A; Boerkoel, Cornelius F; Stewart, Laura; Schlade-Bartusiak, Kamilla; Strong, Emma; Fox, Danya; Gamu, Daniel; Gibson, William T; Jones, Steven J M
