Lv1
40 积分 2023-02-16 加入
A novel mutation (-195C>A) in the promoter region of CFTR gene is associated with Chinese Congenital Bilateral Absence of Vas Deferens (CBAVD)
4天前
求助中
[Analysis of TMC1 gene variants and prenatal diagnosis in four Chinese families affected with deafness]
5天前
已完结
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency
11天前
已完结
Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013
11天前
已关闭
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
18天前
已完结
Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation
23天前
已完结
Fetal Hemoglobin H Hydrops Fetalis: Another Three Case Reports
23天前
已完结
Comprehensive genetic analysis and genotype–phenotype correlations in pediatric patients with atypical hemolytic uremic syndrome
26天前
已完结
[Mutational screening of the SLC26A4 gene in patients with nonsyndromic hearing loss by denaturing high-performance liquid chromatography]
30天前
已完结
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus
1个月前
已关闭
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