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Publications by Nick J. Beauchamp

Novel Genotype-Phenotype and MRI Correlations in a Large Cohort of Patients With SPG7 Mutations

Neurology: Genetics

English

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Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Respiratory Medicine

English

Genotype–phenotype Correlations in Ataxia Telangiectasia Patients With ATM C.3576G>A and C.8147T>C Mutations

Journal of Medical Genetics

English

Fabry Disease: Twenty Novel Α-Galactosidase a Mutations and Genotype-Phenotype Correlations in Classical and Variant Phenotypes

Molecular Medicine

Molecular Medicine

Molecular Biology

English

Epidermolysis Bullosa With Congenital Pyloric Atresia: Novel Mutations in the Β4 Integrin Gene (ITGB4) and Genotype/Phenotype Correlations

Pediatric Research

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Genotype-Phenotype Relationships in a Cohort

European Respiratory Journal

Respiratory Medicine

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Phenotype/Genotype Correlation in a Case Series of Stargardt’s Patients Identifies Novel Mutations in the ABCA4 Gene

Sensory Systems

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A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations

Journal of Developmental and Behavioral Pediatrics

Educational Psychology

English

Genetic Basis and Genotype–Phenotype Correlations in Han Chinese Patients With Idiopathic Dilated Cardiomyopathy

Scientific Reports

Multidisciplinary

English

TheFBN2gene: New Mutations, Locus-Specific Database (Universal Mutation DatabaseFBN2), and Genotype-Phenotype Correlations

English