Lv3
346 积分 2024-11-05 加入
First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient
3天前
已完结
Sequencing of theZMYND15gene in a cohort of infertile Chinese men reveals novel mutations in patients with teratozoospermia
5天前
已完结
Genome sequencing demonstrates high diagnostic yield in children with undiagnosed global developmental delay/intellectual disability: A prospective study
10天前
已完结
[Clinical and genetic characteristics of 62 children with mitochondrial epilepsy]
17天前
已完结
Newborn screening and genetic variation of medium chain acyl-CoA dehydrogenase deficiency in the Chinese population
1个月前
已完结
CFTR complex alleles and phenotypic variability in cystic fibrosis disease
2个月前
已关闭
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
2个月前
已完结
Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A)
2个月前
已完结
Assessment of whole-exome sequencing results in neurogenetic diseases
2个月前
已完结
Crystallite size and lattice strain in nanocrystalline Ni–Mo alloys studied by Rietveld refinement
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