Lv7
3440 积分 2021-09-02 加入
Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome
20天前
已完结
Prenatal diagnosis of polycystic renal diseases: diagnostic yield, novel disease-causing variants and genotype-phenotype correlations
22天前
已完结
Phenotypic and genotypic analysis of 11 fetal cases with Bardet–Biedl syndrome
22天前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
25天前
已完结
Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group
1个月前
已完结
A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening
1个月前
已关闭
[Clinical and imaging features and genetic analysis of a case with adult-onset Krabbe disease]
1个月前
已关闭
三个Fabry病家系GLA基因突变与临床表型
1个月前
已关闭
A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report
2个月前
已完结
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