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Publications by Richard Charlton

Phenotypic Heterogeneity in British Patients With a Founder Mutation in the FHL1 Gene

European Journal of Human Genetics

English

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The Phospholamban p.Arg14del Founder Mutation in Dutch Patients With Arrhythmogenic Cardiomyopathy

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Aggresomeâ€“Autophagy Involvement in a Sarcopenic Patient With Rigid Spine Syndrome and a p.C150R Mutation in FHL1 Gene

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A Common Founder Mutation in the EDA-A1 Gene in X-Linked Hypodontia

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Phenotypic Characteristics Associated With the APC Gene I1307K Mutation in Ashkenazi Jewish Patients With Colorectal Polyps

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Primary Coenzyme Q10 Deficiency-7: Expanded Phenotypic Spectrum and a Founder Mutation in Southern Chinese

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Phenotypic Heterogeneity in a Family With FAP Due to a TTR Leu58Arg Mutation: A Clinicopathologic Study

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A Common Founder for the 35delG GJB2 Gene Mutation in Connexin 26 Hearing Impairment

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Phenotypic Expression and Founder Effect of PANK2 C.1583C>T (p.T528M) Mutation in Serbian Pantothenate Kinase-Associated Neurodegeneration Patients

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High Prevalence of a Missense Mutation of the Glucokinase Gene in Gestational Diabetic Patients Due to a Founder-Effect in a Local Population

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