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毛細血管拡張性運動失調症
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  • [Association between ataxia-telangiectasia and syringomyelia].

  • [Ataxia-telangiectasia]

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

  • Asociación Española Familia Ataxia Telangiectasia

  • Astrocytes restore connectivity and synchronization in dysfunctional cerebellar networks.

  • Ataxia-telangiectasia and wilms tumor: reduced treatment but early relapse.

  • ATM germ line pathogenic variants affect outcomes in children with ataxia-telangiectasia and hematological malignancies

  • Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry

  • IBEC and AEFAT join forces against ataxia telangiectasia

  • Management of individuals with heterozygous germline pathogenic variants in ATM: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

  • Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.

  • Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia.

  • Organoids to study ataxia telangiectasia

  • Rapid molecular prenatal diagnosis of ataxia-telangiectasia by direct mutational analysis.

  • Reconstitution of the Ataxia-Telangiectasia Cellular Phenotype With Lentiviral Vectors.

  • Simple Measurement of IgA Predicts Immunity and Mortality in Ataxia-Telangiectasia

  • Two novel variants in the ATM gene causing ataxia-telangiectasia, including a duplication of 90 kb: Utility of targeted next-generation sequencing in detection of copy number variation.

  • Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12affected patients.

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毛細血管拡張性運動失調症
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  • admin@ataxiatelangiectasia.es