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  • × Deletion
 全选  【符合条件的数据共：17条】

1 Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism [期刊论文]

来源：Molecular Cytogenetics

作者:Joris Vermeesch;Jean-Pierre Fryns;Nicole de Leeuw;等

关键词:Meiotic;Postzygotic;...

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2 Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism [期刊论文]

来源：Molecular Cytogenetics

作者:Joris Vermeesch;Jean-Pierre Fryns;Nicole de Leeuw;等

关键词:Meiotic;Postzygotic;...

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3 Prader-Willi syndrome - type 1 deletion, a consequence of an unbalanced translocation of chromosomes 13 and 15, easily to be mixed up with a Robertsonian translocation [期刊论文]

来源：Molecular Cytogenetics

作者:Jayesh Sheth;Krati Shah;Thomas Liehr;等

关键词:FISH;Unbalanced translocation;...

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4 Two patients with small chromosome 22q11.21 alterations and central nervous system abnormalities [期刊论文]

来源：Molecular Cytogenetics

作者:Shibo Li;Jin Lu;Xianglan Lu;等

关键词:Duplication;Deletion;...

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5 Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy [期刊论文]

来源：Molecular Cytogenetics

作者:Cristina Cuoco;Giorgio Gimelli;Simona Porta;等

关键词:Epilepsy;Intellectual disability;...

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6 Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease [期刊论文]

来源：Molecular Cytogenetics

作者:Lucie Tosca;Philippe Labrune;Gérard Tachdjian;等

关键词:CLCN5;SHROOM4;...

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