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John Wiley & Sons Inc

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A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction

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Springer Publishing Company

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A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate

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polymorphisms are associated with risk for metabolic syndrome

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