Lv11
36 积分 2024-08-17 加入
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson’s disease: mutational spectrum and clinical features
2小时前
已完结
A novel WNT10A variant impairs the homeostasis of alveolar bone mesenchymal stem cells
3天前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
4天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
4天前
已完结
Genetic analysis of compound heterozygous pathogenic variants of the F11 gene in two Chinese patients with hereditary factor XI deficiency
6天前
已完结
Biallelic mutations in ARMC12 cause asthenozoospermia and multiple midpiece defects in humans and mice
1个月前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
1个月前
已完结
Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway
1个月前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
1个月前
已完结
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China
1个月前
已完结
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