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70 积分 2025-03-18 加入
Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese
6天前
已完结
A Presumed Synonymous Mutation of PKD2 Caused Autosomal Dominant Polycystic Kidney Disease in a Chinese Family
12天前
已完结
Hypoparathyroidism Associated with Benign Thyroid Nodules inDiGeorge-like Syndrome: A Rare Case Report and Literature Review
1个月前
已完结
Molecular characterization of a novel 83.9-kb deletion of the α-globin upstream regulatory elements by long-read sequencing
1个月前
已完结
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis
4个月前
已完结
Clinical manifestations of chromosome 19p13.11 duplication
5个月前
已关闭
[Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
6个月前
已完结
[Molecular and clinical study on homozygous or heterozygous large deletion of CYP21A2 gene in 21-OHD patients]
6个月前
已完结
Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants
8个月前
已完结
A familial rearrangement resulting in pure duplication of distal 19p13.3
10个月前
已关闭
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