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10 积分 2022-05-31 加入
CALR3 defects disrupt sperm-zona pellucida binding in humans: new insights into male factor fertilization failure and relevant clinical therapeutic approaches
1小时前
待确认
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
4个月前
已完结
色素失禁症的诊断标准和治疗进展
4个月前
已完结
Challenges of using whole genome sequencing in population newborn screening
8个月前
已完结
Evidence‐based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group
9个月前
已完结
Gene selection for genomic newborn screening: moving towards consensus?
9个月前
已完结
The expanding diagnostic toolbox for rare genetic diseases
10个月前
已完结
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
11个月前
已完结
A Report from the International Collaborative Gaucher Group (ICGG) Gaucher Registry
1年前
已关闭
[Clinical phenotype and genotype of Gaucher disease in 14 children]
1年前
已完结
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