Lv11
100 积分 2023-12-27 加入
Phenotype-genotype correlation in CD36 deficiency types I and II
3个月前
已关闭
[Creating optimal working conditions for persons of older age groups]
3个月前
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Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings
5个月前
已完结
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations
5个月前
已完结
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
5个月前
已完结
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
7个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
8个月前
已完结
Molecular genetics of PKU in Poland and potential impact of mutations on BH4 responsiveness
10个月前
已完结
Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease
10个月前
已完结
Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
11个月前
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