Lv42
750 积分 2025-07-30 加入
Allele-specific PCR and Next-generation sequencing based genetic screening for Congenital Adrenal Hyperplasia in India
26天前
已完结
Exome sequencing in Asian populations identifies rare deficient SMPD1 alleles that increase risk of Parkinson’s disease
28天前
已完结
[Niemann-Pick disease type B with hypersplenism and cleft palate]
28天前
已完结
Congenital neuromuscular variant of glycogen storage disease type IV presenting as hypertrophic cardiomyopathy
1个月前
已完结
High prevalence of Hb Q-Thailand not in cis with the -α4.2 deletion: genotypes, phenotypes, and implications in the cenxi population of southern China
1个月前
已完结
[Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency]
1个月前
已完结
[Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A]
2个月前
已完结
Clinical, biochemical, and genotypical characteristics in urea cycle mitochondrial transporter disorders
2个月前
已完结
Digenic inheritance accounts for phenotypic variability in amelogenesis imperfecta
2个月前
已完结
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