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毛細血管拡張性運動失調症
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  • Pre-emptive Allogeneic Hematopoietic Stem Cell Transplantation in Ataxia Telangiectasia.
  • A historical reflection on our understanding of radiation-induced DNA double strand break repairin somatic mammalian cells; interfacing the past with the present.
  • A late onset variant of ataxia-telangiectasia with a compound heterozygous genotype, A8030G/7481insA.
  • A new ataxia-telangiectasia mutation in an 11-year-old female.
  • A Novel Mechanism of Ataxia Telangiectasia Mutated Mediated Regulation of Chromatin Remodeling in Hypoxic Conditions
  • A-T Society
  • An overview of proactive monitoring and management of respiratory issues in ataxia-telangiectasia in a specialist and shared care pediatric clinic
  • Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affectedindividuals.
  • Ataxia telangiectasia: more variation at clinical and cellular levels.
  • Ataxia telangiectasia: presentation and diagnostic delay.
  • Ataxia telangiectasia: why should the ERS care?
  • ATM Gene Mutation Detection Techniques and Functional Analysis.
  • ATM germline heterozygosity does not play a role in chronic lymphocytic leukemia initiation but influences rapid disease progression through loss of the remaining ATM allele.
  • 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.
  • ATM orchestrates the DNA-damage response to counter toxic non-homologous end-joining at broken replication forks.
  • Biomarkers in Ataxia-Telangiectasia: a Systematic Review
  • Childhood-Onset Movement Disorders Can Mask a Primary Immunodeficiency: 6 Cases of Classical Ataxia-Telangiectasia and Variant Forms
  • Chromosome instability syndromes.
  • Classical ataxia telangiectasia patients have a congenitally aged immune system with high expression of CD95.
  • Clinicopathological significance of ataxia telangiectasia-mutated (ATM) kinase and ataxia telangiectasia-mutated and Rad3-related (ATR) kinase in MYC overexpressed breast cancers.

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