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Digenic Alport Syndrome.
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT. Savige J, et al. Clin J Am Soc Nephrol. 2022 Nov;17(11):1697-1706. doi: 10.2215/CJN.03120322. Epub 2022 Jun 8. Clin J Am Soc Nephrol. 2022. PMID: 35675912 Free PMC article. Review.
DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.
International Alport Mutation Consortium; Savige J, Ars E, Cotton RG, Crockett D, Dagher H, Deltas C, Ding J, Flinter F, Pont-Kingdon G, Smaoui N, Torra R, Storey H. International Alport Mutation Consortium, et al. Among authors: savige j. Pediatr Nephrol. 2014 Jun;29(6):971-7. doi: 10.1007/s00467-013-2486-8. Epub 2013 May 30. Pediatr Nephrol. 2014. PMID: 23720012 Review.
Alport Syndrome in Women and Girls.
Savige J, Colville D, Rheault M, Gear S, Lennon R, Lagas S, Finlay M, Flinter F. Savige J, et al. Clin J Am Soc Nephrol. 2016 Sep 7;11(9):1713-1720. doi: 10.2215/CJN.00580116. Epub 2016 Jun 10. Clin J Am Soc Nephrol. 2016. PMID: 27287265 Free PMC article.
235 results