Lv11
22 积分 2024-08-17 加入
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
44分钟前
已完结
The homozygous variant p.Gln1311* in exon 28 of VWF is associated with the development of alloantibodies in 3 unrelated patients with type 3 VWD
4天前
已完结
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis
5天前
已完结
[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene]
7天前
已完结
A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family
11天前
已完结
Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol
14天前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
14天前
已完结
A rare severe tuberculosis cutis orificialis in a patient with compound heterozygous mutations in the PRF1 gene
14天前
已完结
Genetic Variants of CHD7 Are Associated with Adolescent Idiopathic Scoliosis
26天前
已完结
[Genetic screening in early diagnosis of neonatal WAS gene-related disorders]
27天前
已完结
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