Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods
针对传统诊断方法无法确诊的儿童期发病神经肌肉疾病，采用下一代测序技术进行诊断
期刊:Pediatric Research
影响因子:3.1
doi:10.1038/s41390-025-04160-4
Kulsirichawaroj, Pimchanok; Chanvanichtrakool, Mongkol; Wattanadilokchatkun, Pish; Pho-Iam, Theeraphong; Limwongse, Chanin; Likasitwattanakul, Surachai; Boonyapisit, Kanokwan; Sanmaneechai, Oranee; Nishino, Ichizo; Shotelersuk, Vorasuk; Han, Joohyun; Zuchner, Stephan
