Lv1
10 积分 2026-07-21 加入
Evaluation of the clinical, biochemical, genotype and prognosis of mut -type methylmalonic acidemia in 365 Chinese cases
3小时前
已完结
[Comparison study of whole exome sequencing and targeted panel sequencing in molecular diagnosis of inherited retinal dystrophies]
2个月前
已完结
Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia
2个月前
已完结
[Clinical, biochemical and gene mutation characteristics of short chain acyl-coenzyme A dehydrogenase deficiency by neonatal screening]
2个月前
已完结
Waardenburg综合征Ⅰ型PAX3基因突变筛查及遗传咨询
3个月前
已完结
NIPT在双胎及ART妊娠胎儿染色体非整倍体的检测效能和影响因素分析
3个月前
已完结
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations
3个月前
已完结
皖公网安备34019202002308
