Lv4
490 积分 2025-03-27 加入
Macular and optic nerve hypoplasia in chromosome 2p partial trisomy
1个月前
已完结
The Impact of 8p23 Copy Number Variations on Neurodevelopmental Aetiology: A Focus on Rare Deletions
2个月前
已完结
Loss-of-function mutation in DDX53 associated with hereditary spastic paraplegia-like disorder
4个月前
已完结
A familial 2p14 microdeletion disrupting actin-related protein 2 and Ras-related protein Rab-1A genes with intellectual disability and language impairment
6个月前
已完结
Normal intelligence and premature ovarian failure in an adult female with a 7.6 Mb de novo terminal deletion of chromosome 9p
9个月前
已完结
Updated penetrance estimates for recurrent copy number variants – an improved definition and formula
10个月前
已完结
Karyotype and phenotype association in Turner syndrome with non‐mosaic X chromosome structural rearrangements: Systematic review
1年前
已完结
Microduplication of BTRC detected in a Chinese family with split hand/foot malformation type 3
1年前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
1年前
已完结
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