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Karger

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Oxford University Press

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Genetic Analysis of NR0B1 in Congenital Adrenal Hypoplasia Patients: Identification of a Rare Regulatory Variant Resulting in Congenital Adrenal Hypoplasia and Hypogonadal Hypogonadism without Testicular Carcinoma in situ

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Phenotypic variability in Hey2 −/− mice and absence of HEY2 mutations in patients with congenital heart defects or Alagille syndrome

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