Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies
全基因组测序在核型分析/染色体微阵列检测结果为阴性的先天性多发畸形婴儿中的诊断价值
期刊:Journal of Korean Medical Science
影响因子:2.3
doi:10.3346/jkms.2024.39.e250
Yang, Misun; Kim, Jee Ah; Jo, Heui Seung; Park, Jong-Ho; Ahn, So Yoon; Sung, Se In; Park, Won Soon; Cho, Hye-Won; Kim, Jeong-Min; Park, Mi-Hyun; Park, Hyun-Young; Jang, Ja-Hyun; Chang, Yun Sil