- A flow cytometry assay that measures cellular sensitivity to DNA-damaging agents, customized for clinical routine laboratories.
- A germline chromothripsis event stably segregating in 11 individuals through three generations.
- Allogeneic-matched sibling stem cell transplantation in a 13-year-old boy with ataxia telangiectasia and EBV-positive non-Hodgkin lymphoma.
- An unusual manifestation: Papillary thyroid carcinoma in a patient with ataxia-telengiectasia.
- Assessment of impaired coordination between respiration and deglutition in children and young adults with ataxia telangiectasia.
- Ataxia telangiectasia associated with nodular regenerative hyperplasia.
- Ataxia Telangiectasia Masquerading as Hyper IgM Syndrome.
- Ataxia telangiectasia presenting as hyper IgM syndrome without neurologic signs.
- Ataxia telangiectasia: a review.
- Ataxia telangiectasia: a syndrome deserving attention and study.
- Bilateral maculopathy in a patient with ataxia telangiectasia.
- Childhood colon cancer in a patient with ataxia telangiectasia.
- Corynebacterium propinquum bronchopneumonia in a child with ataxia telangiectasia.
- Cough ability measurements and recurrent respiratory symptoms in individuals with Ataxia Telangiectasia.
- Development of global rating instruments for pediatric patients with ataxia telangiectasia.
- Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.
- Endocrine abnormalities in ataxia telangiectasia: findings from a national cohort.
- Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guideline.
- Integration-free erythroblast-derived human induced pluripotent stem cells (iPSCs) from an individual with Ataxia-Telangiectasia (A-T).
- Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.
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