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Publications by Fernande Gauthier-Barichard

Genotype–phenotype Correlation in Inherited Brain Myelination Defects Due to Proteolipid Protein Gene Mutations

European Journal of Human Genetics

English

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Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

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Thyroid Defects Due to Pax8 Gene Mutations

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Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain

Scientific Reports

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Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

Journal of Data Mining in Genomics & Proteomics

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Correlation Between Genotype and Phenotype in Adult Primary Open Angle Glaucoma and Mutations in Myoc Gene

Open Journal of Chemistry

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

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Fibrodysplasia Ossificans Progressiva: Clinical Course, Genetic Mutations and Genotype-Phenotype Correlation

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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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Genotype/Phenotype Correlation in Hereditary Spherocytosis

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