Lv41
500 积分 2023-07-14 加入
Genetic spectrum analysis of high-carrier-frequency monogenic disorders based on whole-exome sequencing in the Chinese general population
13天前
已完结
Expanded carrier screening for 224 monogenic disease genes in 1,499 Chinese couples: a single-center study
13天前
已完结
Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns
13天前
已关闭
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions
2个月前
已完结
[Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age]
4个月前
已完结
High accuracy of single‐molecule real‐time sequencing in detecting a rare α‐globin fusion gene in carrier screening population
4个月前
已完结
Genetic Analysis and Reproductive Interventions for Two Rare Families Affected by Severe Haemophilia A
4个月前
已完结
Application of capillary gel electrophoresis in detection of Factor VIII gene intron 22 inversion of hemophilia A
4个月前
已完结
Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants：A Descriptive Study
4个月前
已关闭
Improved Genetic Characterization of Congenital Adrenal Hyperplasia by Long-Read Sequencing Compared with Multiplex Ligation-Dependent Probe Amplification Plus Sanger Sequencing
4个月前
已完结
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