Lv4
764 积分 2022-01-12 加入
Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease
13天前
已完结
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
14天前
已完结
Split Immunological Reconstitution in a NEMO-Deficient Male with Incontinentia Pigmenti and Immunodeficiency
1个月前
已完结
Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
1个月前
已完结
[Clinical and laboratory studies on 28 patients with glutaric aciduria type 1]
1个月前
已完结
Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism
1个月前
已完结
Genetic analysis of iodide transporter and recycling (NIS, PDS, SLC26A7, IYD) in patients with congenital hypothyroidism
1个月前
已完结
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
1个月前
已完结
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
1个月前
已完结
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
1个月前
已完结
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