• admin@ataxiatelangiectasia.es
毛細血管拡張性運動失調症
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  • [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 rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype.
  • Ataxia Telangiectasia in a Patient with Breast Cancer: A Case Report
  • Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.
  • Ataxia telangiectasia with vascular abnormalities in the brain parenchyma: report of an autopsy case and literature review.
  • ATM expression is attenuated by promoter hypermethylation in human ovarian endometriotic stromal cells.
  • ATM: Functions of ATM Kinase and Its Relevance to Hereditary Tumors
  • Brain edema with clasmatodendrosis complicating ataxia telangiectasia.
  • Genomic profiling of Acute lymphoblastic leukemia in ataxia telangiectasia patients reveals tight link between ATM mutations and chromothripsis.
  • Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.
  • Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.
  • Unusual clinical manifestations and predominant stopgain ATM gene variants in a single centre cohort of ataxia telangiectasia from North India
  • Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model.
  • Whole-exome sequence analysis of ataxia telangiectasia-like phenotype.

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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