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  • × Orphanet Journal of Rare Disease
  • × Array CGH
 全选  【符合条件的数据共：7条】

1 Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Maria Bitner-Glindzicz;Andrew R Webster;Anne-Francoise Roux;等

关键词:Array CGH;Multiplex ligation dependant probe amplification (MLPA);...

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2 Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1 [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Angela M Kaindl;Denise Horn;Christoph Hübner;等

关键词:Array CGH;Congenital cataract;...

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3 Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1 [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Angela M Kaindl;Denise Horn;Christoph Hübner;等

关键词:Array CGH;Congenital cataract;...

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4 Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Madhuri Hegde;Patricia K Duffner;Ephrem L H Chin;等

关键词:Array CGH;Duplication;...

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5 Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Madhuri Hegde;Patricia K Duffner;Ephrem L H Chin;等

关键词:Array CGH;Duplication;...

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6 Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing [期刊论文]

来源：Orphanet Journal of Rare Diseases

作者:Maria Bitner-Glindzicz;Andrew R Webster;Anne-Francoise Roux;等

关键词:Array CGH;Multiplex ligation dependant probe amplification (MLPA);...

预览  |  原文链接  |  全文  [ 浏览：2 下载：6  ]