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Oxford University Press

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Springer Publishing Company

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Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function

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Human Molecular Genetics, Vol. 10, Iss. 9, 2001-04 ,pp. : 911-918

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Human Molecular Genetics, Vol. 17, Iss. 9, 2008-05 ,pp. : 1201-1213

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Connexin26 Mutations Associated with the Most Common Form of Non-Syndromic Neurosensory Autosomal Recessive Deafness (DFNB1) in Mediterraneans

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