Lv11
94 积分 2024-06-04 加入
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
5小时前
待确认
A Unique Case of Facial Dysmorphism in an Infant
26天前
已完结
Genetic analysis of preaxial polydactyly: identification of novel variants and the role of ZRS duplications in a Chinese cohort of 102 cases
1个月前
已完结
Neuroimaging features of 12q24.31-q24.33 duplication and Cri - du - Chat syndrome in an infant
1个月前
已完结
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome
2个月前
已关闭
DIP2C Deficiency Leads to Abnormal Sphingolipid Metabolism in Mice
2个月前
已完结
Proximal 1q21 duplication: A syndrome or a susceptibility locus?
2个月前
已完结
Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review
2个月前
已完结
Prenatal diagnosis of a familial Xp22.12 duplication in a pregnancy with a favorable fetal outcome
3个月前
已完结
Duplication 18q21.31‐q22.2
3个月前
已完结
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