Lv31
288 积分 2024-01-09 加入
[Analysis of 12 cases with methylmalonicacidemia cblA type]
8小时前
待确认
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
20天前
已完结
Rapid Genetic Analysis in Congenital Hyperinsulinism
1个月前
已完结
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism
2个月前
已完结
Beta-sarcoglycan gene mutations in Turkey
2个月前
已关闭
[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C]
2个月前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
2个月前
已完结
Histopathology of Congenital Hyperinsulinism: Retrospective Study with Genotype Correlations
3个月前
已完结
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria
3个月前
已关闭
Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
4个月前
已完结
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