• admin@ataxiatelangiectasia.es
Ataxia Telangiectasia
  • Home
  • Bibliography
    • Authors
    • Cells and molecules
    • Clinical
    • Country
    • Diseases
    • Drugs
    • Experimental
    • Journals
    • Methods
    • Year
  • Resources
  • What is A-T?
  • News

Genetic

  • [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
  • A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
  • A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
  • Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
  • Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
  • Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
  • Two Novel Mutations Associated With Ataxia-Telangiectasia Identified Using an Ion AmpliSeq Inherited Disease Panel.

Tweets by A_Tinfo

Ataxia Telangiectasia
  • Home
  • Bibliography
    • Authors
    • Cells and molecules
    • Clinical
    • Country
    • Diseases
    • Drugs
    • Experimental
    • Journals
    • Methods
    • Year
  • Resources
  • What is A-T?
  • News
  • admin@ataxiatelangiectasia.es