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毛細血管拡張性運動失調症
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ataxia telangiectasia

  • [Ataxia-telangiectasia: a review].

  • [Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria].

  • A new ataxia-telangiectasia mutation in an 11-year-old female.

  • A novel pathogenic variant in an Iranian Ataxia telangiectasia family revealed by next-generation sequencing followed by in silico analysis.

  • A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.

  • A Patient-Specific Stem Cell Model to Investigate the Neurological Phenotype Observed in Ataxia-Telangiectasia.

  • Acute myeloid leukemia in a patient with ataxia-telangiectasia: a case report and review of the literature.

  • 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.

  • Altered corticomotor-cerebellar integrity in young ataxia telangiectasia patients.

  • Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia.

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毛細血管拡張性運動失調症
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  • A-Tとは何ですか?
  • ニュース
  • admin@ataxiatelangiectasia.es