Lv1
70 积分 2023-01-07 加入
Caudal regression in fetus with de novo SMARCA2 pathogenic variant
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
Clinicopathological features of titinopathy from a Chinese neuromuscular center
2个月前
已完结
Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients
2个月前
已完结
Genetic analysis of adults heterozygous for ALPL mutations
3个月前
已完结
Connexin 26 variants and auditory neuropathy/dys‐synchrony among children in schools for the deaf
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
EGFR and ERBB2 Germline Mutations in Chinese Lung Cancer Patients and Their Roles in Genetic Susceptibility to Cancer
3个月前
已完结
Prenatal, Neonatal, and Early Childhood Features in Congenital Myotonic Dystrophy
3个月前
已完结
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia
3个月前
已完结
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