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 全选  【符合条件的数据共：9条】

1 Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1 [期刊论文]

来源：BMC Medical Genetics

作者:Ans M.W. van den Ouweland;Raoul van de Graaf;Robert van der Helm;等

关键词:Genetic testing;Breakpoint mapping;...

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2 Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1 [期刊论文]

来源：BMC Medical Genetics

作者:Ans M.W. van den Ouweland;Raoul van de Graaf;Robert van der Helm;等

关键词:Genetic testing;Breakpoint mapping;...

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3 Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred [期刊论文]

来源：BMC Medical Genetics

作者:Filippo M Santorelli;Alessandra Tessa;Virgilio Agnetti;等

关键词:Deletion;Genetic modifier;...

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4 Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred [期刊论文]

来源：BMC Medical Genetics

作者:Filippo M Santorelli;Alessandra Tessa;Virgilio Agnetti;等

关键词:Deletion;Genetic modifier;...

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5 Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: case report [期刊论文]

来源：BMC Medical Genetics

作者:Ranhui Duan;Lingqian Wu;Qian Du;等

关键词:Somatic heterogeneity;Mosaic;...

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6 A 16q deletion involving FOXF1 enhancer is associated to pulmonary capillary hemangiomatosis [期刊论文]

来源：BMC Medical Genetics

作者:Giuseppe Damante;Stefano Pizzolitto;Luigi Cattarossi;等

关键词:Gene regulation;Deletion;...

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