7 papers found
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutationsDownload from doi.org
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1Download from discovery.ucl.ac.uk
Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric refluxDownload from doi.org
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapiesDownload from academic.oup.com
Missing publications? Search for publications with a matching author name.