Lv31
388 积分 2024-11-04 加入
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years
10天前
已完结
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China
2个月前
已完结
Deleterious Rare Desmosomal Variants Contribute to Hypertrophic Cardiomyopathy and Are Associated With Distinctive Clinical Features
2个月前
已完结
Wide spectrum of filaggrin-null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations
2个月前
已完结
Mutation analysis of FLG gene in 10 Chinese families with ichthyosis vulgaris
2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
2个月前
已完结
Clinical and genetic characteristics of late-onset Stargardt's disease
2个月前
已完结
Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency
2个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
4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
4个月前
已完结
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