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Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.
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[Association between ataxia-telangiectasia and syringomyelia].
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[Ataxia telangiectasia-like disorder -a child with a novel variant in MRE11A gene].
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[Ataxie télangiectasia et télangiectasies vésicales].
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[Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia].
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[Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria].
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[New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
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A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
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A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia
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A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
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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.