Lv11
30 积分 2025-01-07 加入
[Clinical, biochemical and molecular characteristics in 11 Czech children with tyrosinemia type I]
4小时前
求助中
Type 1 Tyrosinaemia
4小时前
求助中
Genotype and phenotype characterization of primary hypertrophic osteoarthropathy type 2 and chronic enteropathy associated with SLCO2A1: Report of two cases and literature review
2个月前
已完结
Identification of mutations in the prostaglandin transporter gene SLCO2A1 and phenotypic comparison between two subtypes of primary hypertrophic osteoarthropathy (PHO): A single-center study
2个月前
已完结
Molecular landscape of CAPN3 mutations in limb-girdle muscular dystrophy type R1: from a Chinese multicentre analysis to a worldwide perspective
2个月前
已关闭
Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase
3个月前
已完结
Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations
3个月前
已关闭
Nonketotic hyperglycinemia: Functional assessment of missense variants inGLDCto understand phenotypes of the disease
3个月前
已完结
Novel missense mutations of WNK1 in patients with hypokalemic salt‐losing tubulopathies
3个月前
已完结
Novel <i>SLC12A3</i> Mutations in Chinese Patients with Gitelman’s Syndrome
3个月前
已完结
皖公网安备34019202002308
