Lv2
180 积分 2024-11-04 加入
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China
13天前
已完结
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features
14天前
已完结
Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations
28天前
已完结
Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris
1个月前
已完结
Sequencing analysis of whole SLC26A4 gene in severe to profound sensorineural hearing loss patients with IVS7-2A to G mutation of the gene
1个月前
已完结
Clinical and genetic characteristics of late-onset Stargardt's disease
1个月前
已完结
Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency
1个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
2个月前
已完结
Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency
2个月前
已完结
Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period
2个月前
已完结
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