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68 积分 2025-02-08 加入
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients
2天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
12天前
已完结
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
14天前
已完结
2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor
16天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
19天前
已关闭
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China
30天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已完结
Genetic screening of Russian Usher syndrome patients toward selection for gene therapy
1个月前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
1个月前
已关闭
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data
2个月前
已完结
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