Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype–phenotype correlation

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Oxford University Press

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Genotype–phenotype correlation in inherited severe insulin resistance

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Genotype–phenotype correlation in von Hippel-Lindau syndrome

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Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan–Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

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Oxford University Press

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Genotype-Phenotype Correlation for Nucleotide Substitutions in the IgII-IgIII Linker of FGFR2

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Oxford University Press

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