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Genome Medicine|August 23, 2023
Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletionsNikolai Tschernoster, Florian Erger, Stefan Kohl, et al.
Nature Reviews. Nephrology|January 15, 2025
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Lothar Seefried, et al.
Kidney International|July 8, 2021
An international cohort study spanning five decades assessed outcomes of nephropathic cystinosisFrancesco Emma, William Van't Hoff, Katharina Hohenfellner, et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|November 28, 2022
Clinical and genetic characteristics of Dent's disease type 1 in EuropeCarla Burballa, Gerard Cantero-Recasens, Larisa Prikhodina, et al.
Nature Reviews. Nephrology|May 24, 2019
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young peopleCharlotte Gimpel, Carsten Bergmann, Detlef Bockenhauer, et al.
Journal of the American Society of Nephrology : JASN|October 29, 2014
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndromeCarolin E Sadowski, Svjetlana Lovric, Shazia Ashraf, et al.
Nature Genetics|August 3, 2004
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorderRobert Kleta, Elisa Romeo, Zorica Ristic, et al.
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