Lv2
190 积分 2024-01-30 加入
[Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene]
1天前
已完结
Genetic and Clinical Spectrum of PIEZO2-Related Disorders: Insights from a Multicenter Study of 26 Patients
16天前
已完结
[Phenotypic and genetic analysis of a child with partial trisomy 7q]
16天前
已完结
[Clinical and genetic analysis of a case carrying 7p22.3 deletion, 7p22.3p22.2 duplication and 7q33q36.3 duplication]
16天前
已完结
Partial duplication 8p due to interstitial duplication: inv dup(8)(p21.1----p22). Further delineation of the phenotype from birth to adulthood
18天前
已关闭
A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies
23天前
已完结
Application of Genetic Origin Analysis of Copy Number Variations in Non‐Invasive Prenatal Testing
23天前
已完结
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
26天前
已关闭
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
30天前
已关闭
Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo
30天前
已关闭
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