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Publications by Whitney L. Wooderchak

Repository of SMAD4 Mutations: Reference for Genotype/ Phenotype Correlation

Journal of Data Mining in Genomics & Proteomics
2010English

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Point Mutations in Ferroportin Disease: Genotype/Phenotype Correlation

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Distribution and Genotype-Phenotype Correlation of GDAP1 Mutations in Spain

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

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Genotype–Phenotype Correlation of MousePde6bMutations

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2005English

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

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

European Journal of Human Genetics
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Genotype/Phenotype Correlation in Hereditary Spherocytosis

Haematologica
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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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Genotype-Phenotype Correlation in Hereditary Hearing Loss

2018English

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