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  • × Springer
  • × BMC Medical Genetic
  • × Developmental delay
 全选  【符合条件的数据共：8条】

1 Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features [期刊论文]

来源：BMC Medical Genetics , 2017

作者:Niklas Dahl;Shumaila Zulfiqar;Joakim Klar;等

关键词:Cerebellar syndrome;Cerebral atrophy;...

使用许可:CC BY

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2 A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder [期刊论文]

来源：BMC Medical Genetics , 2015

作者:Jillian P. Casey;Sally Ann Lynch;Jennifer McDaid;等

关键词:Primary ciliary dyskinesia;Laterality defects;...

使用许可:CC BY

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3 A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations [期刊论文]

来源：BMC Medical Genetics , 2015

作者:Christos Proukakis;Royana Singh;Tribhuvan M. Mohapatra;等

关键词:Wolf–Hirschhorn syndrome;WHS;...

使用许可:CC BY

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4 W44X mutation in the WWOX gene causes intractable seizures and developmental delay: a case report [期刊论文]

来源：BMC Medical Genetics , 2016

作者:Hussein Kamel;Rehab Ali;Tawfeg Ben-Omran;等

关键词:WWOX;W44X;...

使用许可:CC BY

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5 Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features [期刊论文]

来源：BMC Medical Genetics , 2017

作者:Niklas Dahl;Shumaila Zulfiqar;Joakim Klar;等

关键词:Cerebellar syndrome;Cerebral atrophy;...

使用许可:CC BY

预览  |  原文链接  |  全文  [ 浏览：0 下载：0  ]    

6 A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations [期刊论文]

来源：BMC Medical Genetics , 2015

作者:Christos Proukakis;Royana Singh;Tribhuvan M. Mohapatra;等

关键词:Wolf–Hirschhorn syndrome;WHS;...

使用许可:CC BY

预览  |  原文链接  |  全文  [ 浏览：0 下载：0  ]