Lv11
80 积分 2025-04-01 加入
[Clinical and genetic analysis of 11β-hydroxylase deficiency]
10小时前
求助中
A novel missense mutation, GGC(Arg454) --> TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11beta-hydroxylase deficiency
11小时前
已完结
Novel PKD1 and PKD2 mutations in Taiwanese patients with autosomal dominant polycystic kidney disease
12天前
已完结
[Identification of a novel duplication of Xq13.1 in a case with floppy infant syndrome with SNP-array]
19天前
已完结
Mutation Analysis of the Entire Replicated Portion of PKD1 Using Genomic DNA Samples
22天前
已完结
[Identification of a 17q25.3 duplication in a Chinese patient with global developmental delay and multiple congenital anomalies]
1个月前
已完结
[Analysis of phenotypes and genotypes in 66 patients with 21-hydroxylase deficiency identified by neonatal screening]
1个月前
已完结
Trisomy 1 in a case of a missed abortion
1个月前
已完结
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
1个月前
已完结
Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders
1个月前
已关闭
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