Lv3
290 积分 2021-12-01 加入
Tyrosinase gene mutations in oculocutaneous albinism�1 (OCA1): definition of the phenotype
2天前
已完结
A Novel Single Nucleotide Polymorphism of the Human Methylenetetrahydrofolate Reductase Gene in Japanese Individuals
2天前
已完结
Ectodermal dysplasia–skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1
4天前
已完结
Genotype–phenotype correlation in skin fragility‐ectodermal dysplasia syndrome resulting from mutations in plakophilin 1
4天前
已完结
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome
4天前
已完结
A comparison of the clinical characteristics of pediatric urolithiasis patients with positive and negative molecular diagnoses
6天前
已完结
The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene
13天前
已完结
Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province
13天前
已完结
Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family
14天前
已关闭
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