• 已选条件：
  • × BMC Medical Genomic
  • × Developmental delay
 全选  【符合条件的数据共：3条】

1 CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants [期刊论文]

来源：BMC Medical Genomics , 2021

作者:Christopher Wardley;Jennifer Wardley;Susan Singh;等

关键词:CNKSR2;CNK2;...

使用许可:CC BY

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2 A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures [期刊论文]

来源：BMC Medical Genomics , 2023

作者:Chunnuan Chen;Yingjun Xie;Jianfeng Yao;等

关键词:1q44 microdeletion;Chromosomal microarray analysis;...

使用许可:CC BY

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3 The recurrent WASF1 nonsense variant identified in two unaffected Chinese families with neurodevelopmental disorder: case report and review of the literatures [期刊论文]

来源：BMC Medical Genomics , 2023

作者:Nong Xiao;Guoqing Liu;Xiang Tang;等

关键词:WASF1 gene;Developmental delay;...

使用许可:CC BY

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