Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Case report: Successful PGT-M based on the identification of a spliceogenic variant in the RPGRIP1L gene through Minigene assay.
Xu H et al.
Frontiers in Genetics, 2024
[Clinical and genetic analyses of Joubert syndrome in children].
Zhang GY et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
Clinical and genetic characteristics of 36 children with Joubert syndrome.
Dong Y et al.
Frontiers in Pediatrics, 2023
Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.
Zhang P et al.
Reproductive Sciences (thousand Oaks, Calif.), 2022
Attention to renal involvement: report of 17 Joubert syndrome cases in children of a single center in China.
Ying L et al.
Bmc Pediatrics, 2022
Combined Preimplantation Genetic Testing for Genetic Kidney Disease: Genetic Risk Identification, Assisted Reproductive Cycle, and Pregnancy Outcome Analysis.
Xiao M et al.
Frontiers in Medicine, 2022
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