Lv12
10 积分 2024-12-02 加入
[Analysis of genomic copy number variation for a Chinese patient with split hand/split foot malformation]
1小时前
已完结
[Genetic analysis of a pedigree affected with congenital split-hand/foot malformation]
1小时前
已完结
[Congenital ectrodactyly caused by chromosome 10q24.31 duplication and its pathogenetic analysis]
5小时前
求助中
A Case Report of 10q24.32 Microduplication Associated with Split Hand/Foot Malformation (SHFM) in Prenatal Diagnosis
5小时前
已完结
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
15天前
已完结
A novel Xp11.22 duplication involving HUWE1 in a male with syndromic intellectual disability and additional neurological findings
2个月前
已完结
Updated penetrance estimates for recurrent copy number variants – an improved definition and formula
2个月前
已完结
Updated penetrance estimates for recurrent copy number variants – an improved definition and formula
2个月前
已完结
依托咪酯临床应用指导意见
3个月前
已完结
DMRT1基因变异/单倍剂量不足与46,XY性发育异常
4个月前
已完结