• admin@ataxiatelangiectasia.es
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.
  • [Association between ataxia-telangiectasia and syringomyelia].
  • [Ataxia telangiectasia-like disorder -a child with a novel variant in MRE11A gene].
  • [Ataxie télangiectasia et télangiectasies vésicales].
  • [Clinical, biological and genetic study of 24 patients with ataxia telangiectasia from southern Tunisia].
  • [Haematuria associated with ataxia telangiectasia disease: A literature review and a proposed treatment for a difficult to manage haematuria].
  • [New mutation in ATM gen in patient whith Ataxia Telangiectasia: Clinical case].
  • A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
  • 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 ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas.
  • 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 novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
  • A rare case of ataxia telangiectasia in a 9-year-old female child.
  • 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.
  • Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.
  • Ataxia Telangiectasia and Juvenile Idiopathic Arthritis.
  • Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
  • Ataxia telangiectasia in a three-year-old-girl.

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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