Lv1
42 积分 2025-04-21 加入
Secondary genomic findings in the 2020 China Neonatal Genomes Project participants
17天前
已完结
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations
20天前
已完结
Identification of 8 novel gene variants in primary hyperoxaluria in 21 Chinese children with urinary stones
20天前
已完结
Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy
27天前
已完结
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
1个月前
已关闭
Genetic variations of CD36 and low platelet CD36 expression – a risk factor for lipemic plasma donation in Taiwanese apheresis donors
1个月前
已完结
Functional Analysis of Two Recurrent Amino Acid Substitutions in theCYP21Gene from Italian Patients with Congenital Adrenal Hyperplasia
1个月前
已完结
Presumed missense and synonymous mutations in ATP7B gene cause exon skipping in Wilson disease
1个月前
已完结
KCNJ10 gene mutation in an 8-year-old boy with seizures
2个月前
已完结
Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations
2个月前
已完结
皖公网安备34019202002308
