Lv4
440 积分 2024-07-16 加入
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
9天前
已完结
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
1个月前
已完结
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
1个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
2个月前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)
7个月前
已完结
Novel 4.18 Mb deletion resulting in 2q37 microdeletion syndrome combined with PTH resistance found in one Chinese patient
8个月前
已完结
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
11个月前
已关闭
Human Induced Pluripotent Stem Cells for Inherited Cardiovascular Diseases Modeling
11个月前
已完结
Genomic analysis of 9 infants with hypermethioninemia by whole-exome sequencing among in Henan, China
11个月前
已完结
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