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8 p, 727.2 KB Rare diseases, rare presentations : recognizing atypical inherited kidney disease phenotypes in the age of genomics / Ars Criach, Elisabet (Institut d'Investigació Biomèdica Sant Pau) ; Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
A significant percentage of adults (10%) and children (20%) on renal replacement therapy have an inherited kidney disease (IKD). The new genomic era, ushered in by the next generation sequencing techniques, has contributed to the identification of new genes and facilitated the genetic diagnosis of the highly heterogeneous IKDs. [...]
2017 - 10.1093/ckj/sfx051
Clinical Kidney Journal, Vol. 10 (july 2017) , p. 586-593  

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