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A four-decade disease detective
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A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
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Ataxia-telangiectasia (A-T): An emerging dimension of premature ageing.
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Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
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ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies
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Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
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Genomic Organization of the ATM gene.
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Inactive Atm abrogates DSB repair in mouse cerebellum more than does Atm loss, without causing a neurological phenotype.
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The genetic defect in ataxia-telangiectasia.
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The neurological phenotype of ataxia-telangiectasia: solving a persistent puzzle.