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Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Download from link.springer.comPulmonary alveolar microlithiasis: Review of the 1022 cases reported worldwide
Download from doi.orgAutism spectrum disorders in XYY syndrome: Two new cases and systematic review of the literature
Download from www.researchgate.netPhenotypic spectrum and prevalence of INPP5E mutations in Joubert Syndrome and related disorders
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