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A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
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A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
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Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affectedindividuals.
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Ataxia telangiectasia: more variation at clinical and cellular levels.
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Ataxia-telangiectasia: Immunodeficiency and survival.
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ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
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Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
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Chromosome instability syndromes.
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Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
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Gaze fixation deficits and their implication in ataxia-telangiectasia.
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Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
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Genotype, extrapyramidal features and severity of variant Ataxia-Telangiectasia.
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Growth retardation and growth hormone deficiency in patients with Ataxia telangiectasia.
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Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
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Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.
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Modeling ATM mutant proteins from missense changes confirms retained kinase activity.
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Premature ageing of the immune system underlies immunodeficiency in ataxia telangiectasia.
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Targeting the Ataxia Telangiectasia Mutated-null phenotype in chronic lymphocytic leukemia with pro-oxidants.
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Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
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Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
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