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Publications by Samuel Ignacio Pascual

Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain

Scientific Reports

Multidisciplinary

English

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Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

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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

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Genotype–Phenotype Correlation of MousePde6bMutations

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Genotype/Phenotype Correlation in Hereditary Spherocytosis

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

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Identification and Characterization of Two Novel JARID1C Mutations: Suggestion of an Emerging Genotype-Phenotype Correlation

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

European Journal of Human Genetics

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