Lv4
610 积分 2024-09-21 加入
New diagnosis of late onset combined immune deficiency in an adult with associated 16p13.3 duplication syndrome
12天前
已完结
Clinical course over five decades of a woman carrying 16p13.3 microduplication
12天前
已完结
Xp21 contiguous gene deletion syndrome
29天前
已关闭
Further understanding of paternal uniparental disomy in Beckwith-Wiedemann syndrome
29天前
已完结
P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders
2个月前
已完结
Case Report: First Case of Non-restrictive Ventricular Septal Defect With Congestive Heart Failure in a Chinese Han Male Infant Carrying a Class II Chromosome 17p13.3 Microduplication
3个月前
已完结
Prenatal diagnosis of 2q13 duplications: The crucial role of the family survey in genetic counseling on novel copy number variations
4个月前
已完结
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
4个月前
已完结
Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG)
4个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
4个月前
已完结
皖公网安备34019202002308
