Lv15
46 积分 2022-06-21 加入
[New compound heterozygous mutation causes partial combined 17 alpha-hydroxylase/17,20-lyase deficiency]
2小时前
求助中
A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency
2小时前
已完结
A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency
1天前
已完结
Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood
2天前
已完结
Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
3天前
已关闭
Genetic study of Alport syndrome in Tunisia
4天前
已完结
Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
4天前
已关闭
Characterization of cystathionine β-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6
4天前
已完结
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II
8天前
已完结
Disorders of Tetrahydrobiopterin Metabolism: Experience from South India
18天前
已完结
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