Lv1
70 积分 2023-01-07 加入
Succinic semialdehyde dehydrogenase deficiency of four Chinese patients and prenatal diagnosis for three fetuses
5天前
已完结
Fetal hydrops caused by a novel pathogenic MECOM variant
1个月前
已完结
Caudal regression in fetus with de novo SMARCA2 pathogenic variant
3个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
3个月前
已完结
Clinicopathological features of titinopathy from a Chinese neuromuscular center
4个月前
已完结
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
4个月前
已完结
Genetic analysis of adults heterozygous for ALPL mutations
4个月前
已完结
Connexin 26 variants and auditory neuropathy/dys‐synchrony among children in schools for the deaf
4个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
5个月前
已完结
EGFR and ERBB2 Germline Mutations in Chinese Lung Cancer Patients and Their Roles in Genetic Susceptibility to Cancer
5个月前
已完结