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Human Molecular Genetics, Vol. 12, Iss. 24, 2003-12 ,pp. : 3307-3314

Oxford University Press

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Severe pancreas hypoplasia and multicystic renal dysplasia in two human fetuses carrying novel HNF1/MODY5 mutations

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Germline mutations of regulator of telomere elongation helicase 1, , in Dyskeratosis congenita

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In vitro analysis of partial loss-of-function ZIC2 mutations in holoprosencephaly: alanine tract expansion modulates DNA binding and transactivation

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Towards a functional classification of pathogenic FOXL2 mutations using transactivation reporter systems

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