Lv2
120 积分 2023-05-22 加入
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
2天前
已完结
Screening 3.4 million newborns for primary carnitine deficiency in Zhejiang Province, China
2天前
已完结
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program
5天前
已完结
A Novel IDUA Mutation Causing Ocular Disease in 2 Siblings
25天前
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
Novel Manifestation of Corneal Dystrophy After Keratorefractive Surgery
7个月前
已完结
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
7个月前
已完结
福建省籍各地市人群地中海贫血的分子流行病学研究
7个月前
已完结
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