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80 积分 2023-08-15 加入
A novel DLX3 mutation causes tricho-dento-osseous syndrome with abnormal enamel structure and formation
1天前
待确认
The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations
3天前
已完结
Molecular diagnostic results of a nephropathy gene panel in patients with suspected hereditary kidney disease
7天前
已完结
Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations—A study of six unrelated families from India
21天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已关闭
New nonsense mutation in the breast cancer‐1 gene in a French site‐specific breast cancer family
1个月前
已关闭
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
2个月前
已完结
[Characteristics of genotype of monogenic nephrolithiasis in Chinese pediatric patients with nephrolithiasis]
2个月前
已关闭
Prenatal diagnosis of oculocutaneous albinism type IV and discovery of a novel mutation
2个月前
已完结
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