Lv1
40 积分 2024-06-12 加入
A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family
2天前
已完结
Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss
4天前
已完结
Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss
4天前
已完结
Analysis of fragment size distribution of cell-free DNA: A potential non-invasive marker to monitor graft damage in living-related liver transplantation for inborn errors of metabolism
16天前
已完结
Newborn screening and diagnosis of inborn errors of metabolism: A 5-year study in an eastern Chinese population
1个月前
已完结
[Pedigree survey in a family with hereditary protein S deficiency]
1个月前
已完结
Familial Hemophagocytic Lymphohistiocytosis Screening in Neonatal Sepsis
1个月前
已完结
Variations of the perforin gene in patients with multiple sclerosis
1个月前
已完结
[Expert consensus on clinical genetic counseling of α-thalassemia gene analysis]
2个月前
已完结
Spinocerebellar ataxia type 15 caused by missense variants in the ITPR1 gene
2个月前
已完结
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