Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused by IL2RG Gene Variant

por Ren, Jun, Peng, Cuiting, Zhou, Fan, Li, Yutong, Keqie, Yuezhi, Chen, Han, Zhu, Hongmei, Chen, Xinlian, Liu, Shanling
Publicado 2022

Case report: Optical genome mapping revealed double rearrangements in a male undergoing preimplantation genetic testing

por Ren, Jun, Keqie, Yuezhi, Li, Yutong, Li, Lingping, Luo, Min, Gao, Meng, Peng, Cuiting, Chen, Han, Hu, Ting, Chen, Xinlian, Liu, Shanling
Publicado 2023

A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation

por Peng, Cuiting, Chen, Han, Ren, Jun, Zhou, Fan, Li, Yutong, Keqie, Yuezhi, Ding, Taoli, Ruan, Jiangxing, Wang, He, Chen, Xinlian, Liu, Shanling
Publicado 2023