Lv1
70 积分 2023-10-16 加入
[Chinese expert consensus on genetic testing and genetic counseling for inherited cardiovascular diseases]
5个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
6个月前
已完结
HOGA1 variants in Chinese patients with primary hyperoxaluria type 3: genetic features and genotype–phenotype relationships
6个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy-number variants associated with neurodevelopment
6个月前
已完结
[Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]
7个月前
已完结
[Correlation between the mutation spectrum of the UGT1A1 gene and clinical phenotype in patients with inherited hyperunconjugated bilirubinemia]
7个月前
已完结
[Clinical implications of 2024 edition of WHO classification for G6PD genetic variation]
7个月前
已完结
Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up
7个月前
已完结
Preimplantation Genetic Testing and Carrier Status Detection in Patients with Balanced Chromosomal Rearrangements: A Real-World Multicenter Retrospective Study
7个月前
已完结
The Rh blood group system: RHD update
8个月前
已关闭
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