• admin@ataxiatelangiectasia.es
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
  • Fatal case of ataxia-telangiectasia complicated by severe epistaxis due to nasal telangiectasia in a 12-year-old boy.
  • Fatal outcome despite full lympho-hematopoietic reconstitution after allogeneic stem cell transplantation in atypical ataxia telangiectasia.
  • Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.
  • Granulomatous Liver Disease in Ataxia-Telangiectasia With the Hyper-IgM Phenotype: A Case Report
  • Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: potential diagnostic clues?
  • Long-term survival after allogeneic-matched sibling PBSC transplantation with conditioning consisting of low-dose busilvex and fludarabine in a 3-year-old boy with ataxia-telangiectasia syndrome and ALL.
  • Myoclonic axial jerks for diagnosing atypical evolution of ataxia telangiectasia.
  • Non-hodgkin B-cell lymphoma of the ovary in a child with Ataxia-telangiectasia.
  • Nonalcoholic steatohepatitis in a patient with ataxia-telangiectasia.
  • Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
  • Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family
  • Odalisque's position as a geste antagoniste in a variant phenotype of Ataxia‐Telangiectasia
  • Possible control of cell death pathways in ataxia telangiectasia. A case report.
  • Primary Diffuse Large B-cell Lymphoma Arising in the Tongue Accompanied by Ataxia-telangiectasia: A Case Report.
  • Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.
  • T-cell ALL in ataxia telangiectasia cured with only 7 weeks of anti-leukemic therapy.
  • The clinical spectrum of ataxia telangiectasia in a cohort in Sweden
  • The critically ill patient with ataxia-telangiectasia: a case series.
  • 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.
  • Unusual absence of neurologic symptoms in a six-year old girl with ataxia-telangiectasia.

3 / 4

  • 1
  • 2
  • 3
  • 4

Language

  日本語 (Japan)
  • Hindi (India)
  • Hebrew
  • Arabic (اللغة العربية)
  • Turkish (Turkey)
  • 日本語 (Japan)
  • Russian (Russia)
  • Français (France)
  • Deutsch (Deutschland)
  • Español (España)
  • Nederlands (nl-NL)
  • Português Brasileiro (pt-BR)
  • Polski (PL)
  • Italiano (Italia)
  • English (United Kingdom)

Tweets by A_Tinfo

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