Lv41
474 积分 2025-02-08 加入
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
4小时前
已完结
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
4小时前
已完结
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1个月前
已完结
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy
1个月前
已完结
Residual β cell function and monogenic variants in long-duration type 1 diabetes patients
1个月前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
2个月前
已完结
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
2个月前
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
2个月前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
2个月前
已关闭
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China
2个月前
已完结
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