Lv41
530 积分 2024-07-16 加入
Fibrinogen Hangzhou: congenital dysfibrinogenemia caused by the novel missense mutation in FGG (γ308Asn→Thr)
4小时前
已完结
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C
28天前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
2个月前
已完结
Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system
3个月前
已完结
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
3个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
4个月前
已完结
Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)
9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
9个月前
已完结
Structure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome
1年前
已关闭
Human Induced Pluripotent Stem Cells for Inherited Cardiovascular Diseases Modeling
1年前
已完结
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