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Publications by Stephan Unkelbach

Genotype and Phenotype in Patients With Noonan Syndrome and a RIT1 Mutation

Genetics in Medicine

English

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Cancer Risk in Patients With Noonan Syndrome Carrying a PTPN11 Mutation

European Journal of Human Genetics

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Noonan Syndrome: Comparing Mutation-Positive With Mutation-Negative Dutch Patients

Molecular Syndromology

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Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics

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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American Journal of Human Genetics

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Phenotype and Genotype in 17 Patients With Goltz-Gorlin Syndrome

Journal of Medical Genetics

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Genotype–phenotype Association in Patients With SCN4A Mutation – Authors' Reply

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Genotype‐phenotype Correlation and Prognostic Impact in Chinese Patients With Alport Syndrome

Molecular genetics & genomic medicine

Molecular Biology

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Genotype-Phenotype Correlation in Brazillian Rett Syndrome Patients

Arquivos de Neuro-Psiquiatria

Biological Psychiatry

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APC and MUTYH Analysis in FAP Patients: A Novel Mutation in APC Gene and Genotype-Phenotype Correlation

English