Lv31
318 积分 2024-01-09 加入
[Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C]
22小时前
待确认
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
1天前
已完结
Histopathology of Congenital Hyperinsulinism: Retrospective Study with Genotype Correlations
13天前
已完结
Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria
1个月前
已关闭
Transient congenital hypothyroidism caused by compound heterozygous mutations affecting the NADPH-oxidase domain of DUOX2
1个月前
已完结
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy
1个月前
已完结
[Establishment of a hMSH2/hMSH6 protein interaction system and functional evaluation of hMSH2 gene missense mutations]
1个月前
已完结
Molecular genetics of HMG-CoA lyase deficiency
1个月前
已完结
Ten novelHMGCLmutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria
1个月前
已完结
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
1个月前
已关闭
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