Lv1
10 积分 2024-08-14 加入
Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
2天前
已完结
Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing
2天前
已完结
Unique and Recurrent Mutations in the Filaggrin Gene in Singaporean Chinese Patients with Ichthyosis Vulgaris
2天前
已完结
The clinical spectrum of type IV collagen mutations
7天前
已完结
Hereditary hemolytic anemia caused by diverse point mutations of pyruvate kinase gene found in Japan and Hong Kong
8天前
已完结
Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type
9天前
已完结
btn1, theSchizosaccharomyces pombehomologue of the human Batten disease geneCLN3, regulates vacuole homeostasis
9天前
已完结
[Clinical phenotypes and genotypic spectrum of cystic fibrosis with pancreatic insufficiency in children]
16天前
已完结
LBR mutation and nuclear envelope defects in a patient affected with Reynolds syndrome
17天前
已完结
Sex differences of Chinese patients with primary localized cutaneous amyloidosis
17天前
已完结
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