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570 积分 2024-09-21 加入
P582: CSMD1 intragenic exonic deletions strengthen the association with neurodevelopmental disorders
14天前
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
2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
2个月前
已完结
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
2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)
2个月前
已完结
A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment
2个月前
已完结
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
2个月前
已完结
Genotype-Phenotype Correlation of Distal 2q37 Deletions
3个月前
已关闭
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
3个月前
已完结
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
3个月前
已完结
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