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70 积分 2025-08-26 加入
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum
1天前
待确认
Early prenatal diagnosis of spondylocostal dysostosis caused by a novel variant in MESP2
1个月前
已完结
Real-world effects of using gnomAD 4.1.0 and AllofUs population reference datasets on reporting of variants of uncertain significance
2个月前
已关闭
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport Syndrome
2个月前
已完结
Expert consensus on clinical genome sequencing interpretation and reporting
3个月前
已完结
[Spectrum of GJB6 variants in 318 pedigrees with non-syndromic hearing loss:one deafness pedigree carrying both GJB6 and GJB2 deletion variant]
3个月前
已完结
[Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene]
3个月前
已关闭
Evaluating the efficacy of a long-read sequencing-based approach in the clinical diagnosis of neonatal congenital adrenocortical hyperplasia
4个月前
已完结
FSIP2plays a role in the acrosome development during spermiogenesis
4个月前
已完结
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations
4个月前
已完结
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