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Chronic granulomatous disease caused by mutations other than the common GT deletion inNCF1, the gene encoding the p47phoxcomponent of the phagocyte NADPH oxidase
2天前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
2天前
已完结
TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype
16天前
已完结
Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis
5个月前
已完结
High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing
1年前
已完结
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