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20 积分 2023-05-22 加入
Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease
4天前
已完结
Gene mutations and clinical features of pediatric sitosterolemia
16天前
已完结
Hemizygous Fabry disease associated with membranous nephropathy: A rare case repor
17天前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
22天前
已完结
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China
22天前
已完结
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
24天前
已完结
A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings
1个月前
已完结
Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China
7个月前
已完结
Mutations in the Thyrotropin Receptor Gene: Correlation between Genetically Altered Structural Elements of the Thyrotropin Receptor and Functional Disorders of the Thyroid Gland
7个月前
已完结
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