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Publications by Cheryl Maslen

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

English

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Genotype-Phenotype Correlations in PCD Patients Carrying DNAH5 Mutations

Respiratory Medicine

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

Neurology: Genetics

English

The Use of Genotype-Phenotype Correlations in Mutation Analysis for the Long QT Syndrome

Journal of Medical Genetics

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Genotype–phenotype Correlations in THAP1 Dystonia: Molecular Foundations and Description of New Cases

Parkinsonism and Related Disorders

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

Molecular Medicine

Molecular Medicine

Molecular Biology

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

Journal of Medical Genetics

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Phenotype-Genotype Correlations in X Linked Retinitis Pigmentosa.

Journal of Medical Genetics

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Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations

Multidisciplinary

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Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics

English