Lv1
80 积分 2025-04-01 加入
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: deafness, non-syndromic, autosomal recessive
16天前
已关闭
Glucocerebrosidase activity in Parkinson’s disease with and withoutGBAmutations
3个月前
已完结
Levels of Lyso GL-1 in Gaucher and Lyso GL-3 in Fabry patients from India: Diagnostic aids for these lysosomal storage disorders
3个月前
已完结
[Clinical phenotype and genotype of Gaucher disease in 14 children]
3个月前
已完结
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
4个月前
已关闭
Genetic and phenotypic spectrum of non-21-hydroxylase-deficiency primary adrenal insufficiency in childhood: data from 111 Chinese patients
4个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
8个月前
已完结
一例鼻骨发育不良的21部分三体胎儿的产前遗传学诊断
11个月前
已完结
皖公网安备34019202002308
