- 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.
- 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 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.
- Variant ataxia telangiectasia: clinical and molecular findings and evaluation of radiosensitive phenotypes in a patient and relatives.
