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Publications by Judith van Gaalen
Genotype–phenotype Correlations in Ataxia Telangiectasia Patients With ATM C.3576G>A and C.8147T>C Mutations
Journal of Medical Genetics
Genetics
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Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients
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Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations
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Genotype-Phenotype Correlations of the Central Core Disease Mutations in the C-Terminal Region of the RyR1 Channel
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ATM (Ataxia Telangiectasia Mutated)
Atlas of Genetics and Cytogenetics in Oncology and Haematology
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Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations
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Ataxia-Telangiectasia: A Review of Movement Disorders, Clinical Features and Genotype Correlations - Addendum
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ATM and the Molecular Pathogenesis of Ataxia Telangiectasia
Annual Review of Pathology: Mechanisms of Disease
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Forensic Medicine
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Atm Reactivation Reverses Ataxia Telangiectasia Phenotypes in Vivo
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Cell Biology
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Beta-Myosin Heavy Chain (Β-Mhc) and Myosin Binding Protein C (MyBP-C) Genes Mutation in Bangladeshi Hypertrophic Cardiomyopathy Patients: A Genotype-Phenotype Correlation
Canadian Journal of Biotechnology
