Lv1
42 积分 2024-08-17 加入
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
1天前
已完结
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
7天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
15天前
已完结
Rare variant analysis of UQCRC1 in Chinese patients with early-onset Parkinson’s disease
17天前
已完结
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
23天前
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
28天前
已完结
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis
28天前
已完结
[Analysis of two cases of glycogen storage disease type III due to compound heterozygous variants of AGL gene]
1个月前
已完结
A novel missense mutation in the CRYBA2 caused autosomal dominant presenile cataract in a Chinese family
1个月前
已完结
Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol
1个月前
已完结
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