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Molecular Genetics and Metabolism|July 14, 2022
Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosisChristina Nießl, Anne-Laure Boulesteix, Jun Oh, et al.
Human Mutation|February 19, 2013
Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseMiriam Schmidts, Valeska Frank, Tobias Eisenberger, et al.
The Journal of Clinical Investigation|October 24, 2017
Advillin acts upstream of phospholipase C ϵ1 in steroid-resistant nephrotic syndromeJia Rao, Shazia Ashraf, Weizhen Tan, et al.
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