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  • × Springer
  • × Developmental delay
 全选  【符合条件的数据共：22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 Partial deletion of chromosome 6p causing developmental delay and mild dysmorphisms in a child: molecular and developmental investigation and literature search [期刊论文]

来源：Molecular Cytogenetics , 2021

作者:Elisavet Siomou;Emmanouil Manolakos;Ioannis Papoulidis;等

关键词:6p22.3 deletion;Syndrome;...

使用许可:CC BY

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3 A de novo 10q11.23q22.1 deletion detected by whole genome mate-pair sequencing: a case report [期刊论文]

来源：BMC Pediatrics , 2021

作者:Chuanchun Yang;Shanmei Tang;Kai Wang;等

关键词:Whole-genome mate-pair sequencing;10q11-q22 deletion syndrome;...

使用许可:CC BY

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4 MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent [期刊论文]

来源：Molecular Cytogenetics , 2021

作者:Chin-To Fong;M. Anwar Iqbal;Bin Zhang;等

关键词:MEIS2;Deletion;...

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5 Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders [期刊论文]

来源：Molecular Cytogenetics , 2021

作者:Haiming Gao;Wanting Cui;Yuanyuan Zhang;等

关键词:15q24 microdeletion;Developmental delay;...

使用许可:CC BY

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6 Prospective and detailed behavioral phenotyping in DDX3X syndrome [期刊论文]

来源：Molecular Autism , 2021

作者:Puneet Belani;Ivy Giserman-Kiss;Jessica Zweifach;等

关键词:Autism;Developmental delay;...

使用许可:CC BY

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