Lv1
8 积分 2022-07-18 加入
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1个月前
已完结
Biventricular non-compaction cardiomyopathy and tricuspid hypoplasia in a novel non-POU domain-containing octamer-binding gene variant
6个月前
已完结
A novel NONO nonsense variant in a fetus with renal abnormalities
6个月前
已完结
Novel hemizygous loss‐of‐function variant in NONO identified in a South African boy
7个月前
已完结
Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1
2年前
已完结
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
2年前
已完结
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