- A Novel ATM Gene Mutation Affecting Splicing in an Ataxia-Telangiectasia Patient
- A Novel Splice Site Mutation of the ATM Gene Associated with Ataxia Telangiectasia.
- Ataxia Telangiectasia Gene Mutation in Isolated Segmental Dystonia Without Ataxia and Telangiectasia.
- Ataxia-telangiectasia: mild neurological presentation despite null ATM mutation and severe cellular phenotype.
- ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
- ATM mutation spectrum in Russian children with ataxia-telangiectasia.
- ATM mutations and phenotypes in ataxia-telangiectasia families in the British Isles: expression of mutant ATM and the risk of leukemia, lymphoma, and breast cancer.
- Characterization of ATM gene mutations in 66 ataxia telangiectasia families.
- Clinical variability in ataxia-telangiectasia.
- Functional classification of ATM variants in Ataxia-Telangiectasia patients.
- Functional Classification of the ATM Variant c.7157C>A and In Vitro Effects of Dexamethasone
- Identification of ATM mutations in Korean siblings with ataxia-telangiectasia.
- Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene.
- Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations.
- Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia.
- Molecular defects in Moroccan patients with ataxia-telangiectasia.
- Novel ATM mutation in a German patient presenting as generalized dystonia without classical signs of ataxia-telangiectasia.
- Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family
- Novel mutations in ataxia telangiectasia and AOA2 associated with prolonged survival.
- Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective.
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