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Oxford University Press

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The Lowe syndrome protein OCRL1 is involved in primary cilia assembly

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“Lowe syndrome: A particularly severe phenotype without clinical kidney involvement”

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Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology

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Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse)

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