Lv21
118 积分 2024-06-04 加入
Neurobehavioral profile of individuals with pathogenic variants in CHD3
1小时前
待确认
Clinical findings in individuals with duplication of genes associated with X-linked intellectual disability
16天前
已完结
Inherited CSNK2A1 variants in families with Okur‐Chung neurodevelopmental syndrome
1个月前
已完结
Two novel CSNK2A1 variants associated with mild Okur-Chung neurodevelopmental syndrome phenotype
1个月前
已完结
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
1个月前
已完结
A Unique Case of Facial Dysmorphism in an Infant
2个月前
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
2个月前
已完结
Neuroimaging features of 12q24.31-q24.33 duplication and Cri - du - Chat syndrome in an infant
2个月前
已完结
Novel nonsense mutation of GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome
3个月前
已关闭
DIP2C Deficiency Leads to Abnormal Sphingolipid Metabolism in Mice
3个月前
已完结
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