Lv2
158 积分 2022-01-19 加入
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
2天前
已完结
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China
3天前
已完结
Familial Leucine-Sensitive Hypoglycemia of Infancy Due to a Dominant Mutation of the β-Cell Sulfonylurea Receptor
8天前
已完结
Evidence for single origins of 35delG and delE120 mutations in the GJB2 gene in Anatolia
9天前
已完结
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]
13天前
已完结
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies
24天前
已完结
Structure of the Human Type IV Collagen Gene COL4A3 and Mutations in Autosomal Alport Syndrome
27天前
已完结
FGF23-Mediated Hypophosphatemic Rickets: Phenotype, Genotype, and Comparison to Non-FGF23-Mediated Forms
28天前
已完结
Whole exome sequencing identifies SCD5 as a novel causative gene for autosomal dominant nonsyndromic deafness
1个月前
已完结
[Identification of a novel HLA allele HLA-B*55:35]
1个月前
已完结
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