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A new ataxia-telangiectasia mutation in an 11-year-old female.
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A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas.
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A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.
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A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.
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A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
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A rare case of ataxia telangiectasia in a 9-year-old female child.
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Allogeneic Stem Cell Transplantation after Fanconi Anemia Conditioning in Children with Ataxia-Telangiectasia Results in Stable T Cell Engraftment and Lack of Infections despite Mixed Chimerism.
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Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.
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Ataxia Telangiectasia and Juvenile Idiopathic Arthritis.
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Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
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Ataxia telangiectasia in a three-year-old-girl.
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Ataxia Telangiectasia in Siblings: Oral Motor and Swallowing Characterization.
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Ataxia Telangiectasia with Giant Suprasellar Arachnoid Cyst - A Case Report and a Brief Review
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Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review.
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Ataxia telangiectasia: report of two cases.
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Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.
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Ataxia-Telangiectasia Presenting as Tremor-Predominant Syndrome in an Adult Patient without Ataxia and Telangiectasias
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Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case report.
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Ataxia-telangiectasia: A new remitting form with a peculiar transcriptome signature
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Ataxia-telangiectasia: atypical presentation and toxicity of cancer treatment.