Lv1
30 积分 2022-11-09 加入
Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A
10个月前
已完结
Novel mutation of the cathepsin C gene identified in a Portuguese patient with atypical Papillon-Lefèvre syndrome
1年前
已完结
WELDING OF HIGH-MANGANESE STEEL CROSSING AND HIGH-CARBON STEEL RAIL
1年前
已完结
[Mutational analysis and prenatal diagnosis of COL1A1 and COL1A2 genes in four Chinese families affected with osteogenesis imperfecta]
1年前
已完结
Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands
1年前
已完结
Identification of a novel mutation of GALNS gene from a Chinese pedigree with mucopolysaccharidosis type IV A
1年前
已完结
Pathologic quiz case 2. Merkel cell carcinoma, or primary neuroendocrine carcinoma of the skin
1年前
已关闭
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants
1年前
已完结
Correction to: Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations
1年前
已完结
[Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology]
1年前
已完结
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