Lv21
152 积分 2024-11-14 加入
Efficiency of clinical exome sequencing in the diagnosis of pediatric genodermatoses: A prospective cohort study
1小时前
待确认
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
4天前
求助中
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
5天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
13天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
1个月前
已完结
Diagnostic and clinical utility of next‐generation sequencing in children born with multiple congenital anomalies in the China neonatal genomes project
1个月前
已完结
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing
1个月前
已完结
Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study
3个月前
已完结
<b><i>MKRN3</i></b> Mutations in Familial Central Precocious Puberty
5个月前
已关闭
Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae
5个月前
已完结
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