Lv31
278 积分 2023-09-13 加入
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
1小时前
待确认
Genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects identified by phenotyping for trimethylaminuria and found in a database of genome resources
8天前
已完结
[Consensus on method selection, experimental testing, and data analysis of newborn genetic screening (2026 Edition)]
22天前
已完结
Clinical feature, GALC variant spectrum, and genotype–phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
2个月前
已完结
[Analysis of 12 patients with novel mutations of Dystrophin gene]
2个月前
已完结
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
3个月前
已完结
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
3个月前
已完结
Mutation spectrum of PAH gene in phenylketonuria patients in Northwest China: identification of twenty novel variants
5个月前
已完结
Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex
5个月前
已完结
Recurrent duplications of 17q12 associated with variable phenotypes
5个月前
已完结
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