Lv41
590 积分 2025-05-01 加入
Neurologic outcome following liver transplantation for methylmalonic aciduria
9天前
已完结
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
1个月前
已关闭
Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy
1个月前
已关闭
Decoding splicing complexity: integrated genomic analysis reveals two novel pathogenic variants in Chinese dystrophinopathy pedigrees
1个月前
已完结
Development and Validation of a Disease-Specific, Patient-Reported Outcome Measure: The Myotonic Dystrophy Type 2 Health Index
1个月前
已完结
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population
1个月前
已关闭
Result of Sanger sequencing for newborn carriers of single heterozygous variants of GJB2 or SLC26A4 gene by genechip analysis
1个月前
已完结
A novel autosomal dominant variant in TMC1 and rare autosomal recessive variants in GJB2, SLC26A4 caused congenital hearing loss in Vietnamese children
2个月前
已关闭
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