Lv1
90 积分 2023-12-27 加入
Rapid, comprehensive screening of the human medium chain acyl-CoA dehydrogenase gene
8小时前
求助中
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population
8小时前
已完结
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
8小时前
已完结
Phenotype-genotype correlation in CD36 deficiency types I and II
5个月前
已关闭
[Creating optimal working conditions for persons of older age groups]
5个月前
已关闭
Thiamine withdrawal can lead to diabetic ketoacidosis in thiamine responsive megaloblastic anemia: report of two siblings
7个月前
已完结
Mutation spectrum in the French cohort of galactosemic patients and structural simulation of 27 novel missense variations
7个月前
已完结
A frameshifting mutation in CHRNE unmasks skipping of the preceding exon
7个月前
已完结
Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita
9个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
10个月前
已完结
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