Lv8
9980 积分 2020-07-31 加入
SHOX far‐downstream deletion in a patient with nonsyndromic short stature
10天前
已完结
Prenatal diagnosis for fetuses with isolated and non‐isolated congenital heart defects using chromosomal microarray and exome sequencing
25天前
已完结
A rare rearrangement of 5q31.2 in a child with a neurodevelopmental syndrome
6个月前
已完结
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions
6个月前
已完结
15q26.3 deletions distal to IGF1R cause growth retardation, congenital heart defect and skeletal anomalies: Case report and review of literature
6个月前
已完结
Cryptic duplication of 12q24.33→qter in a child with Angelman syndrome—simultaneous occurrence of two unrelated cytogenetic events
6个月前
已完结
[Prenatal diagnosis and genetic analysis of a fetus with Xp22.12 microduplication]
6个月前
已完结
625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability
6个月前
已完结
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities
6个月前
已完结
Prevalence and characteristics of gonadoblastoma in a retrospective multi-center study with follow-up investigations of 70 patients with Turner syndrome and a 45,X/46,XY karyotype
7个月前
已完结
