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Publications by F Reina

Genotype-Phenotype Relationship in 12 Patients Carrying Cystic Fibrosis Mutation R334W.

Journal of Medical Genetics

English

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A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype

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

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Genotype/Phenotype Association in Cystic Fibrosis: Analyses of the ΔF508, R553X, and 3905insT Mutations

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Genotype-Phenotype Relationship and Risk Stratification in Loss-Of-Function SCN5A Mutation Carriers

Annals of Noninvasive Electrocardiology

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

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Phenotypic Expression of the p.Leu1077Pro CFTR Mutation in Sicilian Cystic Fibrosis Patients

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The Cystic Fibrosis F508del Mutation in Crohn's Disease

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Genotype-Specific Small-Molecule Therapy for Cystic Fibrosis

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