Lv5
890 积分 2021-12-17 加入
Clinical exome sequencing findings in 1589 patients
12天前
已完结
Raine syndrome: Report of a novel mutation and review of the different antenatal imaging modalities used to diagnose this disease
1个月前
已完结
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
1个月前
已完结
Crystal structure of a copper-transporting PIB-type ATPase
1个月前
已完结
Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
5个月前
已完结
Prenatal exome sequencing in fetuses with callosal anomalies
5个月前
已完结
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities
8个月前
已完结
XBP1 Activation Reduces Severity of Polycystic Kidney Disease due to a Nontruncating Polycystin-1 Mutation in Mice
8个月前
已完结
Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex
9个月前
已完结
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype
9个月前
已完结
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